Παρασκευή, 21 Δεκεμβρίου 2018

A 3-year-old child with alternate convergent squint and abnormal movements of eyes since 1 year

ONE MINUTE OPHTHALMOLOGY
Year : 2019  |  Volume : 67  |  Issue : 1  |  Page : 7

Hypopigmented fundus in a young male


Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India

Date of Web Publication21-Dec-2018

    

Correspondence Address:
Dr. Vinod Kumar
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi - 110 029 
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1834_18

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How to cite this article:
Shaikh NF, Kumar V. Hypopigmented fundus in a young male. Indian J Ophthalmol 2019;67:7

How to cite this URL:
Shaikh NF, Kumar V. Hypopigmented fundus in a young male. Indian J Ophthalmol [serial online] 2019 [cited 2018 Dec 22];67:7. Available from: http://www.ijo.in/text.asp?2019/67/1/7/248137




  Case Top


A 3-year-old boy presented with alternate convergent squint and abnormal movements of eyes since 1 year. Family and systemic history was unremarkable. The child had a best-corrected visual acuity of 20/100 in both eyes (OU). Ocular examination revealed pendular nystagmus and normal anterior segments in OU. Iris OU was brown-colored. Dilated fundus examination revealed a hypopigmented fundus with prominent choroidal vessels [Figure 1]a, [Figure 1]b. Macular pigments and foveal avascular zone (FAZ) were lacking in OU.
Figure 1: Dilated fundus examination revealed a hypopigmented fundus with prominent choroidal vessels (a and b). Macular pigments and foveal avascular zone (FAZ) were lacking in OU. Swept-source optical coherence tomography revealed an absent foveal contour and preservation of retinal layers in the foveal area (c and d)

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  What is Your Next Step? Top


  1. Refraction and optical coherence tomography (OCT)
  2. Magnetic resonance imaging
  3. Genetic analysis
  4. Visual evoked potentials and electroretinogram



  Findings Top


The child had a refractive error of + 3D in OU. Color vision was found to be normal for the child. Swept-source OCT revealed an absent foveal contour and preservation of retinal layers in the foveal area [Figure 1]c, [Figure 1]d. A diagnosis of ocular albinism and foveal hypoplasia was made, and the parents were explained about the prognosis. The child was prescribed glasses and was advised regular follow-up in addition to a strabismic evaluation.


  Diagnosis Top


Ocular albinism with foveal hypoplasia


  Correct Answer: A. Top



  Discussion Top


Ocular albinism is an X-linked disorder in contrast to oculocutaneous albinism, which is inherited in a autosomal recessive manner.[1],[2] Patients usually present with a variable decrease in visual acuity (visual acuity ranging from 20/60 to 20/400), nystagmus, strabismus, and photophobia. While oculocutaneous albinism is an easy diagnosis, ocular albinism may pose a diagnostic challenge as iris may not be hypopigmented.[1],[2] The patients are frequently mistaken as having myopia as the fundus is lightly pigmented. Foveal hypoplasia is a frequent association and can be easily missed. Absent foveal reflex, FAZ, and macular pigments indicate foveal hypoplasia, which can be confirmed on OCT (preservation of retinal layers at fovea) or fundus fluorescein angiography (absent FAZ).

Ocular albinism is characterized by mutation in the GPR143 gene leading to dysfunctional melanosome ultimately resulting in macromelanosomes.[1],[2] Melanin acts as an inducer and organizer of the formation of the fovea, optic nerves, optic tracts, and visual cortex. Absence or deficiency of melanin leads to ocular structure malformation and optic tract misrouting.

To conclude, high index of suspicion is required to diagnose ocular albinism as the fundus in these cases is easily confused with myopia.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Federico JR, Krishnamurthy K. Albinism. [Updated 2018 Jul 28]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018.  Back to cited text no. 1
    
2.
De Filippo E, Schiedel AC, Manga P. Interaction between G protein-coupled receptor 143 and tyrosinase: Implications for understanding ocular albinism type 1.J InvestDermatol2017;137:457-65.  Back to cited text no. 2
    

The Scientific Journal of Al-Azhar Medical Faculty, Girls : Subarachnoid versus intravenous dexmedetomidine and fentanyl for minimizing stress response in laparoscopic cholecystectomy Mofeed Abdalla The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):137-143 Background The magnitude of stress response depends on several factors such as duration and intensity of surgical trauma, patient’s age, surgical method, anesthetic technique, blood loss, and postoperative pain. Aim of the work The aim of this work was to study the effect of intravenous versus intrathecal dexmedetomidine and fentanyl on stress response during laparoscopic cholecystectomy. Patients and methods Sixty patients fulfilling the inclusion criteria who were undergoing laparoscopic cholecystectomies were randomly assigned to receive either intravenous fentanyl and dexmedetomidine (group I) or intrathecal fentanyl and dexmedetomidine (group II). Mean arterial blood pressure and heart rate were recor

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Subarachnoid versus intravenous dexmedetomidine and fentanyl for minimizing stress response in laparoscopic cholecystectomy
Mofeed Abdalla

The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):137-143

Background The magnitude of stress response depends on several factors such as duration and intensity of surgical trauma, patient’s age, surgical method, anesthetic technique, blood loss, and postoperative pain. Aim of the work The aim of this work was to study the effect of intravenous versus intrathecal dexmedetomidine and fentanyl on stress response during laparoscopic cholecystectomy. Patients and methods Sixty patients fulfilling the inclusion criteria who were undergoing laparoscopic cholecystectomies were randomly assigned to receive either intravenous fentanyl and dexmedetomidine (group I) or intrathecal fentanyl and dexmedetomidine (group II). Mean arterial blood pressure and heart rate were recorded before induction of anesthesia (T0), 5 min after intubation (T1), 30 min after start of surgery (T2), at skin closure (T3), 6 h postoperatively (T4), and 24 h postoperatively (T5). The number of patients who required intraoperative intravenous fentanyl and total intraoperative fentanyl consumption (µg), and the number of patients who required intravenous morphine at the end of surgery were recorded. Visual analogue scale and total postoperative morphine consumption (mg) at the end of surgery (M0), and at 6, 12, 18, and 24 h (M1, M2, M3, and M4, respectively) were recorded. Blood interleukin-6, cortisol, and glucose were measured before anesthesia (F0) and after recovery (F1). Postoperative complications were recorded. Results Heart rate and mean arterial blood pressure were statistically lower in group II at T2 and T3. The number of patients requiring intraoperative intravenous fentanyl and total intraoperative fentanyl consumption (µg), and the number of patients requiring intravenous morphine at the end of surgery were statistically lower in group II. Visual analogue scale and postoperative morphine consumption (mg) were statistically lower in group II at M0 and M1. Blood cortisol and blood glucose level were statistically lower in group II at F1. There were no statistical differences as regards complications. Conclusion Apart from lowering heart rate and BP, intrathecal dexmedetomidine and fentanyl was superior to intravenous dexmedetomidine and fentanyl, wherein it lowered pain score and analgesic consumption with attenuation of stress response. 


Comparison between subtenon block and extraconal block during cataract surgery
Ahmed M Abd El-Galeel, Osama I.A Badr, Khaled G Mohamed

The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):144-149

Background Most ophthalmic procedures are performed under local anesthesia, and cataract extraction is the most frequently performed surgery in elderly patients. The aim of this study is to compare the intraoperative hemodynamic variables, efficacy, and efficiency of extraconal block versus subtenon block with low concentration of local anesthetic during cataract surgery. Patients and methods This prospective, randomized, and single-blind study was done on 80 patients American Society of anesthesiologists status I–III undergoing cataract surgery, of which 40 patients underwent subtenon block (group S) and 40 patients underwent extraconal block (group E). Five minutes after the start of anesthetic monitoring care, 5-ml mixture of lidocaine 1% and bupivacaine 0.25% containing 100 IU hyalorunidase, in a mixture ratio of 1 : 1, was injected intraocular slowly. Patients were monitored for intraoperative hemodynamics, ocular movement during surgery, and intraoperative pain sensation as primary outcome, and onset of blockade, pain assessment within 30 min postoperatively, number of patients need rescue dose, surgeon discomfort, and postoperative complications as secondary outcomes. Results Mean arterial blood pressure and heart rate in group S were significantly lower than those in group E but within safety margin. No significant difference was found between the two groups regarding full range of eye movement, surgeon’s discomfort grade during cataract surgery, and also, intraoperative pain sensation. The onset of blockade was significantly faster in group S than group E. Although group S had better postoperative analgesic effect than group E, postoperative rescue dose was of insignificant value. Conclusion Subtenon block seems to be a better local anesthetic technique than extraconal for cataract surgery, as it is faster, has less surgeon discomfort grading, and better postoperative analgesia. However, on the contrary, both subtenon and extraconal blocks are equally effective in pain control during surgery and also have good ocular akinesia during operation. 


Endometrial hyperplasia versus carcinoma: does phosphatase and tensin homolog immunohistochemical expression differentiate between them
Marwa A El Kholy, Eman A El Kholy

The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):150-155

Context Phosphatase and tensin homolog (PTEN) is a protein that acts as a tumor suppressor by dephosphorylating the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. Loss of PTEN function and mutation in PTEN gene have been implicated in the pathogenesis of endometrial carcinoma (EC). Objective The aim was to evaluate the immunohistochemical expression of PTEN in endometrial hyperplasia and EC and to evaluate the relationship between its expression and tumor grade in EC. Materials and methods Specimens included 16 cases of endometrial hyperplasia without atypia, six cases of atypical endometrial hyperplasia, and 18 EC specimens. Immunohistochemical staining for PTEN was performed using diaminobenzidine detection kit on formalin-fixed and paraffin-embedded tissue samples. Tumor tissue blocks and clinical data were collected from the files of the Pathology Department of Al-Zahraa University Hospital during the period 2010–2014. Results Immunohistochemistry showed that PTEN was positive for nuclei and cytoplasm of glandular endometrial cells. The PTEN expression was decreased significantly in atypical hyperplasia or EC compared with simple or complex hyperplasia (P0.041). In EC, we proved that PTEN expression is downregulated in high-grade tumors. Conclusion A positive PTEN expression correlates significantly with hyperplasia without atypia and well-differentiated tumors. The downregulation of PTEN indicates a more malignant phenotype. 


Brain natriuretic peptide for prediction of mortality in patients with sepsis
Amani K Mohamed, Nagwa Abd El-Ghaffar Mohamed, Nalgaa Abou-Elfattah Tawfik, Marwa Yahia Mohamed

The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):156-162

Introduction Worldwide, sepsis is one of the leading causes of morbidity and mortality. Patients are at high risk for irreversible organ failure and a lethal course. About 60 000 individuals die from sepsis annually, and survivors have a reduced quality of life. In addition, sepsis places a considerable economic burden on the society. Early and comprehensive treatment improves outcome significantly. Brain natriuretic peptides (BNPs) are powerful predictors of death and major events in patients with stable coronary disease and pulmonary embolism. Several prospective studies have been carried out to investigate the potential role of BNPs in predicting mortality in septic patients in ICUs. The aim of this prospective study was to evaluate BNP for the prediction of mortality and myocardial dysfunction in severe sepsis and septic shock. Patients and methods This prospective study was carried out on 50 patients including group I, patients with sepsis, group (II), patients with severe sepsis, and group III, patients with septic shock. This study was carried out in the ICU of the Internal Medicine Department, Al-Zahraa University Hospital, in the period between January 2013 and March 2014 with written consents from our patients according to the ethical committee of the university. BNPs were determined by enzyme-linked immunosorbent assay. Results There was a highly statistical difference in the mean±SD of the BNP levels in group III (901.77±259.6) compared with group II (610.84±102.46), P value less than 0.01; also, there was a statistical difference in the BNP levels in group III (901.77±259.6) compared with group I (217.4±81.16), P value less than 0.01, whereas there was a statistically significant difference in group II (610.84±102.46) compared with group I (217.4±81.16), P value less than 0.05. In terms of the correlation between the BNP levels and other parameters of the patient groups, there was a highly positive significant correlation between BNP levels and the acute physiology and chronic health evaluation (APACHE II) score, the Sequential Organ Failure Assessment score, and white blood cells count. A significant positive correlation was found between BNP levels and prothrombin concentration (PC). There was a nonsignificant correlation between BNP and age, creatine phosphokinase, creatine kinase-MB, serum glutamic oxaloacetic transaminase, serum glutamic pyruvic transaminase, prothrombin time, international normalized ratio, and length of stay. Conclusion Our results suggested that an elevated BNP level may prove to be a powerful predictor of mortality in patients with sepsis. Future larger and more adequately powered prospective studies are warranted to clarify the prognostic value of BNPs in conjunction with other biomarkers. 


Expression of TWIST1 and CD44 as diagnostic and prognostic biomarkers in patients with gastric cancer
Marwa A El Kholy, Hala A El Sayed, Eman M Ahmed

The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):163-170

Objective The aim of this study was to investigate the association of TWIST1 and CD44 in gastric cancer (GC) with clinical parameters and their relation to prognosis, which may be beneficial for targeted therapeutic strategies in the future. Materials and methods The material of this work consisted of 40 primary GC specimens from patients who underwent radical gastrectomy. Patients who received neoadjuvant chemotherapy or chemoradiotherapy, those who presented with other cancers at the same time, or the patients with incomplete clinical data were excluded from the study. Hematoxylin and eosin-stained sections from all cases were re-evaluated and further stained immunohistochemically using antibodies against TWIST1 and CD44. Results TWIST1 and CD44-positive expressions were significantly increased in GC cases of diffuse type (P=0.019 and 0.002, respectively). Moreover, there was a statistically significant correlation between both markers and tumor grade, stage, and lymphovascular invasion (P=0.027 and 0.010, P=0.002 and 0.012, and P=0.001 and 0.005, respectively). A statistically significant correlation was found between TWIST1 and CD44 expressions in GCs (P=0.000). Conclusion The presence of TWIST1-positive carcinoma cells and CD44-positive cancer stem-like cells in GC tissue can be used as a diagnostic tool for GC and regarded as a marker of poor prognosis in patients with GC, which may provide potential targets for GC therapy. 


Homocysteinemia in relation to anemia in hypothyroid patients
Samia Souka, Hanaa Kandil, Soheir Korraa, Aida A Abdel Hameed, Marwa Hassan

The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):171-180

Background Anemia and hypothyroidism are both common diseases in the community. Homocysteine (HCY) levels are increased in patients with hypothyroidism and methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common genetic cause of hyperhomocysteinemia. The aim of the present study was to evaluate the level of serum HCY in patients with hypothyroidism and to study the relation of associated anemia with the serum level of HCY and MTHFR gene in patients with hypothyroidism. Patients and methods The study was conducted on 60 adult women attending the Endocrinology Outpatient Clinic of Al-Zahraa Hospital between September 2014 and June 2015 for proper diagnosis and management. Individuals of the study were divided into two main groups: group I (GI) with 30 hypothyroid patients, where 13 of them were postsurgical cases, and group II (GII) with 30 euthyroid individuals as a control group. Diagnosis was based on thyroid-stimulating hormone level reference values. Patients in GI were further classified into two subgroups: mild hypothyroid (subgroup I) and overt hypothyroid (subgroup II). Patient and control groups also were classified into anemic and nonanemic subgroups according to hemoglobin levels. The selected hypothyroid patients were women under thyroid hormone replacement therapy. Blood sample was obtained for proper investigations. Complete blood count, routine blood chemistry, serum iron level, thyroid function tests, vitamin B12 level, serum homocysteine (HCY), and MTHFR were performed. We performed a pilot study on MTHFR gene polymorphism. The C677T MTHFR gene mutation was detected in three of 10 patients and in two of 10 controls. No evidence of TT MTHFR gene mutation was observed in both patient and control groups. IBM SPSS statistics (version 23.0, USA, 2015) was used for data analysis. Results revealed the presence of anemia according to hemoglobin level (<12 g/dl). In patients group (GI), 50% (15/30) as compared with 13.3% (4/30) in the control group (GII) had anemia. Serum iron level in patients group (GI) was deficient in 40% (11/30), whereas deficient in 16.7% (5/30) in control group (GII). Vitamin B12 deficiency was found to be 44% (11/25) in patients group (GI), whereas in the control group (GII) was 6.7% (2/30). Analysis by Wilcoxon’s rank sum test, homocysteine (HCY) serum level showed a highly significant increase among patients (GI) as compared with control (GII). Ranked Spearman’s correlation test for the patients (GI) and control (GII) showed a significant negative correlation between homocysteine (HCY) and MTHFR serum levels, whereas the correlation with red cell indices parameters was insignificant. Serum iron and B12 levels were significantly correlated in patient group (GI). Pearson χ2 tests were done between both patients and control groups for the presence of anemia, iron deficiency, and elevated serum homocysteine (HCY) level and all revealed statistically significant results. Conclusion There is no significant correlation between homocysteinemia and anemia. However, the strong association between anemia and hypothyroidism is attributed mainly owing to combined iron and vitamin B12 deficiencies. This might explain the decreased response to treatment among the selected hypothyroid patients. 


Impact of direct-acting antiviral therapy in Egyptian patients with chronic hepatitis C and liver cirrhosis
Mohammed H Elnadry, Sherif A Abdel-Aziz, Mohammed Ghareb, Ali A Ahamad, Nagah M Abu-Mohammed, Marwan M Tayel

The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):181-188

Background and aims In Egypt, ∼14.7% of the population has hepatitis C infection and genotype 4 infection accounts for more than 90% of the hepatitis C virus infections. Available data with newer all-oral regimens in the treatment of genotype 4 infection suggest that sustained virological response (SVR) 12 rates in treatment-naïve cirrhotic and noncirrhotic patients are greater than 95%. The study aimed to evaluate the virological response 12 weeks after treatment (SVR12), change in the model for end-stage liver disease score, and adverse clinical events during the study period. Patients and methods This prospective study included 451 patients with chronic hepatitis C and liver cirrhosis over a 3-month period started at January 2017. And the study was ethically approved by the Medical Research Ethics Committee, Faculty of Medicine, Al-Azhar University. The enrolled patients were classified into three groups: group I included 162 patients with chronic hepatitis C and liver cirrhosis subjected to direct-acting antivirals (DAAs) therapy (100/162 compensated cirrhosis and 62/162 decompensated cirrhosis), group II included 234 patients known to have chronic hepatitis C without liver cirrhosis subjected to DAAs therapy, and group III included 55 patients with chronic hepatitis C and liver cirrhosis not subjected to DAAs therapy according to the national protocol of therapy (as a control group). Treatment was administered for 12 weeks that included variable regimens of DAAs according to the Egyptian Ministry of Health protocol. Results We included 451 patients with chronic hepatitis C infection and liver cirrhosis; 47.8% of the patients were male, 84.4% were treatment naive, and 54.9% had cirrhosis. Of the study participants, 150 patients in group I and 53 patients in group II received sofosbuvir+daclatasvir+ribavirin, 183 patients received daclatasvir+sofosbuvir (group II), seven patients in group II received sofosbuvir+ledipasvir, five patients received sofosbuvir+ledipasvir+ribavirin (in group I), and seven patients in group I and nine patients in group II received ombitasvir/paritaprevir/ritonavir+ribavirin. Twelve weeks after end of treatment (SVR12) were 91.3% and 96.5% observed in group I and group II, respectively irrespective of the regimen of therapy. Treated patients in group I had a mean negative change in model for end-stage liver disease (−0.722; SD, 2.603) representing an improvement in liver function, whereas untreated patients in group III showed a minimal mean positive change (0.00; SD, 2.92) representing a deterioration in liver function (P<0.001). Improvements were observed in the Child-score (Child–Pugh–Turcotte) in group I versus untreated patients in group III. Hepatic encephalopathy was evident in 6.1% of patients in group I after treatment versus 38.1% in untreated patients (group III), and ascites developed in 30.2% of patients after treatment (group I) versus 65.4% in untreated patients (group III). Conclusion Oral regimens of DAAs are effective in the treatment of hepatitis C virus infection even in patients with liver cirrhosis, leading to improvements in liver functions. 


Studying the changes of ocular wavefront aberrations after neodymium : yttrium aluminum garnet laser capsulotomy
Nermeen M Badawi

The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):189-193

Aimof the study The aim of this study is to evaluate the changes of wavefront aberrations after performing neodymium : yttrium aluminum garnet (Nd : YAG) laser posterior capsulotomy for the management of posterior capsular opacifications. Patients and methods This study is a prospective study that was performed on 100 eyes of 87 patients with posterior capsule opacification following phacoemulsification, in the period from March 2017 to October 2017. A complete ophthalmic examination and optical wavefront imaging were performed to every patient. Patients underwent posterior capsulotomy using Nd : YAG laser with a follow-up period of 6 months. Results There were no significant changes in postoperative refraction at P value more than 0.05 still the best-corrected visual acuity showed a clinically significant at P value less than 0.05. The intraocular pressure was statistically significantly increased on the first postoperative day (P<0.05) but not in other postoperative visits. Regarding higher order aberrations there was a statistically significant improvement in total third-order aberrations (P<0.05), coma aberration (P<0.05), total fourth-order aberrations (P<0.05), spherical aberration (P<0.05), and total higher order aberrations (P<0.05) while quadrafoil and fifth-order aberrations showed no statistically significant changes. Conclusion Nd : YAG laser posterior capsulotomy causes a significantly decrease in wavefront aberrations in patients with posterior capsule opacification. 


Bone mineral density in relation to polycystic ovary syndrome: an insight into irisin and insulin
Olfat Fawzy, Nagwa A Elghaffar, Eman Mahmoud, Abeer Helmy

The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):194-204

Background and aim Polycystic ovary syndrome (PCOS) is a complex metabolic and endocrine disorder. The influence of different metabolic and endocrine changes in women with PCOS and their relevance to bone status remains to be documented. Irisin is a newly identified adipo-myokine, which may play a role in the etiopathogenesis of PCOS as well as bone metabolism. The aim of the study was to assess bone mineral density (BMD) and serum irisin level in women with PCOS and to determine BMD relationship with irisin and other hormonal parameters. Patients and methods The study enrolled 80 women of reproductive age having PCOS and 15 age-matched and BMI-matched healthy women to serve as controls. A metabolic panel, reproductive hormones, and serum irisin level were measured. In addition, BMD of the spine and femur was also assessed using dual-energy X-ray absorptiometry. Results Serum irisin level, fasting insulin, and homeostatic model assessment of insulin resistance were significantly higher in the PCOS group compared with the control group. Receiver operating characteristic curve for serum irisin was done for the PCOS group and the control group and demonstrated that the cut-off value for serum irisin was 0.161 μg /dl. There was also a statistically significant difference between the PCOS group and the control group in BMD of spine and femur, being higher in the PCOS group. Logistic regression analysis has shown that serum irisin level, waist circumference, and fasting serum insulin were predictors for the z-score of spine in the PCOS group. Conclusion Serum irisin level may be considered as a novel biomarker for PCOS diagnosis. Circulating irisin in PCOS is strongly related to BMD. This suggests that irisin as an adipo-myokine may also be associated with bone metabolism. 


Occult hepatitis B virus among patients with chronic hepatitis and hepatocellular carcinoma
Khodeir A Naeima, Abd-El-Samae M Eman, Aly R Dina, El-Moatassem M Ola

The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):205-211

Background Hepatitis B virus (HBV) infection is diagnosed when the circulating HBV surface antigen (HBsAg) is serologically detected. Occult HBV infection is defined as the infection state negative for HBsAg serology, but it has shown viral genome persistence in infected individuals. The aim of the study is to determine the prevalence of occult HBV among patients with chronic hepatitis negative to HBsAg in the presence or absence of hepatitis C virus (HCV) infection. Patients and methods This study was conducted on a total number of 55 patients with chronic hepatitis (liver cirrhosis in 44 cases, nonalcoholic fatty liver in six cases) and hepatocellular carcinoma in five cases. All studied cases were subjected to routine liver function tests, HBsAg, HBsAb, hepatitis c virus immunoglobulin G (HbcIgG), α-fetoprotein, HCV RNA, and HBV DNA detection. Result All cases were negative to HBsAg and HBsAb in the presence or absence of HCV infection. HBV DNA detection by real-time RT-PCR confirmed the positivity of HBV infection [occult hepatitis b infection (OBI)] in two (4.5%) out of 44 cases of cirrhotic liver and represented 3.6% of the total cases studied with a viral DNA of 116 and 159 copies/ml, respectively. One case of OBI had a high level of α-fetoprotein (392 Iu/ml) and the second case had high copies of HCV RNA 127 000 copies/ml, that is coinfection. HbcIgG was positive in 31.8% in cirrhotic patients (including one out of the two positive OBI). HCV RNA was negative in 100.0% of nonalcoholic fatty liver, positive in 39 (one was positive OBI) cases with cirrhosis with a median value of 45 000 copies and in four out of the five hepatocellular carcinoma cases with a median value of 1.85E+08. This is statistically significant (P=0.01). We come to the conclusion that occult HBV do exist in our community. The diagnosis of OBI should be based on high sensitivity of HBsAg and HBV DNA testing. 


Unsteadiness in gait, profuse sweating, exanthematous vesicular rash.Acute cerebellar ataxia due to varicella zoster virus

A rare neurological sequelae of chicken pox in an adult p. 268
Kandan Balamurugesan, Prem Davis, Rajangam Ponprabha, Malaimala Sarasveni
DOI:10.4103/2221-6189.248032  
Chicken pox is a disease of childhood caused by varicella zoster virus belonging to the α-herpesvirus-3 family. But the clinical presentation in adults is uncommon and is usually associated with complications. The complications are more commonly seen in immunocompromised individuals and in people who get infected at the later age group. Since the varicella zoster virus rarely causes cerebellar disease in adults, hence here we report a non-immunized, immune-competent adult patient presented to the emergency department with unsteadiness in gait, profuse sweating, exanthematous vesicular rash. We made a diagnosis of acute cerebellar ataxia due to varicella zoster virus and treated accordingly.
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Atypical case of severe preeclampsia complicated by generalized convulsions (eclampsia) and hemolysis, elevated liver enzymes, and low platelet count syndrome in an 18 weeks pregnant patient with chronic hypertension

Severe eclampsia and HELLP syndrome at 18 weeks of pregnancy in a patient with chronic hypertension p. 265
Tomasz Wojewoda, Edyta Unkiewicz, Ewa Wojewoda-Chmiel, Piotr Bijak, Michal Bogusiewicz
DOI:10.4103/2221-6189.248031  
Preeclampsia is a pregnancy specific disease characterized by hypertension and proteinuria, by definition, developing after 20 weeks of pregnancy. Here we present an atypical case of severe preeclampsia complicated by generalized convulsions (eclampsia) and hemolysis, elevated liver enzymes, and low platelet count syndrome in an 18 weeks pregnant patient with chronic hypertension. Occurrence of these complications was preceded by upper right quadrant abdominal pain and severe hypertension. In this case no evidence of autoimmunity disorders or molar pregnancy was found.
http://www.jadweb.org/currentissue.asp?sabs=y

Acute dengue hypokalemic paralysis complicated by hypomagensemia

 p. 262
Durgesh Pushkar, Bidyut Roy, Hirdesh Chawla, Tauhid Ahmad
DOI:10.4103/2221-6189.248030  
Endemic to over 100 countries dengue virus infection has now become the most rapidly spreading mosquito-borne disease in the world. Dengue symptoms range from minor flu-like symptoms to major complications like bleeding, shock, and rarely death due to organ failure. Atypical manifestations of neurological, cardiovascular, gastrointestinal origin are collectively grouped into the expanded dengue syndrome. Acute motor quadriparesis have been reported in several cases of dengue infection. We report a rare and non-fatal case of motor quadriparesis due to hypokalemia complicated by associated hypomagnesemia in a dengue positive patient.
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The changes of cognitive function after brain-blast injury

Changes of inflammatory factors, reactive oxygen species and cognitive function in mice after brain-blast injury p. 258
Ying Liu, Yun-En Liu, Chang-Ci Tong, Hong-Xu Jin
DOI:10.4103/2221-6189.248025  
Objective: To study the changes of cognitive function in mouse after brain-blast injury. Methods: Fourty healthy male C57BL/6 mice were randomly divided into model group and control group. After 24 h of injury, histopathological changesc and reactive oxygen species changes were observed under microscope; while changes of inflammatory cytokines content were determined by Western-blot. Four weeks later, Morris water maze method was used to detect the cognition impairment. Results: HE staining showed blast induced brain injury in C57BL/6 mice. Compared with normal control group, the expression of IL-1β,IL-4, IL-6 were significantly increased in brain tissue of model group whereas IL-10 was significantly decreased (P<0.05); ROS expression in the hippocampus of model group mice was significantly increased compared with that in the control group. Morris water maze showed cognition impairment in mice after brain-blast injury. Conclusions: Brain-blast injury causes cognition impairment in mice, which may be related to the occur of inflammatory change and oxidative stress in the early stage.
http://www.jadweb.org/currentissue.asp?sabs=y

The role of regulatory T cells (Tregs) at late stages of stroke

Effect of partial depletion of CD25+ T cells on neurological deficit and tissue damage in acute cerebral ischemia rat models p. 247
Ana L Rodriguez-Perea, Johanna Gutierrez-Vargas, Mauricio Rojas, Gloria P Cardona-Gomez, Paula A Velilla
DOI:10.4103/2221-6189.248029  
Objective: To evaluate the role of regulatory T cells (Tregs) at late stages of stroke. Methods: Anti-CD25 antibody (or PBS as a control) was injected to reduce the pool of Tregs in Wistar rats; then, ischemia was induced transiently by middle cerebral artery occlusion during 60 min and reperfusion was allowed for 7 d. Then, Treg frequency was analyzed in peripheral blood, spleen and lymph nodes. Neurological score (0-6) and infarct volume were also determined. Results: Nine days after injection, the CD4+CD25+ T cells were reduced by 70.4%, 44.8% and 57.9% in peripheral blood, spleen and lymph nodes, respectively compared to PBS-treated rats. In contrast, the reduction of CD4+FOXP3+ T cells was lower in the same compartments (38.6%, 12.5%, and 29.5%, respectively). The strongest reduction of CD25+CD4+ T cells was observed in those FOXP3-negative cells in blood, spleen and lymph nodes (77.8%, 52.8%, and 60.7%, respectively), most likely corresponding to activated T cells. Anti-CD25-treated transient middle cerebral artery occlusion rats had a lower neurological deficit and did not develop tissue damage compared with PBS-treated animals. Conclusions: These findings suggest that treatment with anti-CD25 in our model preferentially reduce the T cell population with an activated phenotype, rather than the Treg population, leading to neuroprotection by suppressing the pathogenic response of effector T cells.
http://www.jadweb.org/currentissue.asp?sabs=y

Intranasal ketamine as an analgesic agent for acute pain management in emergency department

: A literature review p. 241
Abdolghader Pakniyat, Morteza Qaribi, Dorin Rahnama Hezaveh, Ali Abdolrazaghnejad
DOI:10.4103/2221-6189.248028  
Ketamine is a well-known dissociative anesthetic agent, and has been used over 50 years. Intranasal pathway is a mucosal way for absorbing agents to directly affect in brain via olfactory sheets, bypassing first pass metabolism and the blood brain barrier. The current uses of intranasal ketamine as an analgesic agent for acute pain management in emergency department are discussed in this review article. Using "ketamine", "pain or analgesia", and "intranasal" as keywords, a search of google scholar, Pubmed, web of science, and Medline database from 1970 until 2017 was performed. Finally, from 1 204 papers extracted via primary search, 1 088 papers were omitted and finally 10 studies were considered for further assessment. There were four observational studies, one case series and report and 5 clinical trials. Ketamine was used for acute pain control due to musculoskeletal trauma, burns, and painful procedures. A total of 390 cases were included in these studies. The studies used ketamine with doses ranging 0.45-1.25 mg/kg via intranasal pathway. Intranasal ketamine provides relatively rapid, well tolerated, and clinically significant analgesia for emergency department patients. Considering the lack of adequate studies and undetermined intranasal dose, it is better to conduct further high quality investigation in both adults and pediatrics.
http://www.jadweb.org/currentissue.asp?sabs=y

Endogenous endophthalmitis secondary to melioidosis in paediatric patients



Endogenous endophthalmitis secondary to melioidosis in paediatric patients: Case series and review article p. 234
Wendy Ong Chin Feng, Wee Min Teh, Wan-Hazabbah Wan Hitam, Haslina Mohammad Ali
DOI:10.4103/2221-6189.248027  
Endogenous endophthalmitis is a devastating infection of the eye which can lead to permanent blindness. We report two rare cases of paediatric endogenous endophthalmitis secondary to melioidosis with contrasting visual outcomes. Both patients presented with acute painful visual loss with poor vision on presentation after exposure to open water sources (swimming at two separate locations with waterfalls). Both were diagnosed to have melioidosis endogenous endophthalmitis based on the ocular features clinically and via positive melioidosis serology. They otherwise did not exhibit any symptoms and signs suggestive of systemic melioidosis infection. Even though the two children demonstrated severe ocular involvement, ocular culture from vitreous and aqueous sampling taken from one of the patients did not yield any positive results. No ocular sampling was taken from the other patient. After standard antimicrobial treatment, the first patient responded well with good visual recovery without requiring any surgical intervention for the endophthalmitis. In contrast, our second patient ended up with poor visual outcome despite undergoing multiple intravitreal antibiotic injections and early pars plana vitrectomy. This is because he developed extensive retinal detachment due to the aggressive ocular infection. The diagnosis of endogenous endophthalmitis due to ocular melioidosis remains challenging and requires a high index of suspicion in areas endemic for the causative organism. Early empirical antibiotic treatment should be initiated in suspicious cases, even though the treatment outcomes may vary greatly
http://www.jadweb.org/currentissue.asp?sabs=y

Thyroidectomy Increases the Risk for Osteoporosis

Clinical Thyroidology, Volume 30, Issue 12, Page 563-565, December 2018.


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Rephrasing a Thyroid Cancer Diagnosis Results in Less Anxiety and Greater Likelihood for Active Surveillance

Clinical Thyroidology, Volume 30, Issue 12, Page 578-580, December 2018.


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Comprehensive Modeling of the Medical Literature Demonstrates Superior Cost Effectiveness and Quality of Life Using the 2015 Compared to the 2009 American Thyroid Association Guidelines for Managing Thyroid Nodules and Differentiated Thyroid Cancer

Clinical Thyroidology, Volume 30, Issue 12, Page 546-550, December 2018.


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TI-RADS Classification Is Not Helpful in Predicting Malignancy in Cytologically Indeterminate Thyroid Nodules

Clinical Thyroidology, Volume 30, Issue 12, Page 570-573, December 2018.


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Genomewide Studies Uncover Many New Factors That Affect TSH and Free T4 Levels and Thyroid Hormone Metabolism

Clinical Thyroidology, Volume 30, Issue 12, Page 551-553, December 2018.


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Farewell Editorial

Clinical Thyroidology, Volume 30, Issue 12, Page 544-545, December 2018.


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Predictive Value of ThyroSeq Genomic Classifier of Indeterminate Thyroid Nodules Varies Between Institutions

Clinical Thyroidology, Volume 30, Issue 12, Page 554-556, December 2018.


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Kinase Inhibitors May Enhance I-131 Uptake in Thyroid Cancer

Clinical Thyroidology, Volume 30, Issue 12, Page 566-569, December 2018.


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Papillary Thyroid Cancer Recurrence in the Lateral Neck Can Be Treated with Surgery or Ethanol Ablation

Clinical Thyroidology, Volume 30, Issue 12, Page 557-559, December 2018.


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Zirconium-89–Labeled Anti-Galectin-3 Antibodies Show Thyroid Cancer–Specific Uptake in Three Thyroid Cancer Cell Lines in an Orthotopic Mouse Model

Clinical Thyroidology, Volume 30, Issue 12, Page 574-577, December 2018.


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Maternal Thyroid Function During Pregnancy Is Associated with Increased Childhood Risk for Thyroid Disease, Type 1 Diabetes, and Schizophrenia

Clinical Thyroidology, Volume 30, Issue 12, Page 560-562, December 2018.


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CASE REPORT: New-Onset Autoimmune Thyrotoxicosis with Alemtuzumab Therapy Followed by Rapid Development of Hypothyroidism

Clinical Thyroidology, Volume 30, Issue 12, Page 581-584, December 2018.


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How children of first responders can benefit from counseling

Counseling provides a welcoming space for children to discuss worries and share experiences unique to being in a first responder family

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Improvement of motor function induced by skeletal muscle contraction in spinal cord-injured rats

The involvement of neurotrophic factors such as brain-derived neurotrophic factor (BDNF) in functional recovery after spinal cord injury (SCI) by treadmill training has been suggested. The precise mechanism is poorly understood. However, muscle-derived bioactive molecules (myokines) are known to be produced by muscle contraction. Although BDNF is a myokine and is considered to be a potential mediator of neuroplasticity following exercise, its contribution to motor function recovery after SCI has not yet been described in detail.

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The NECK trial: Effectiveness of anterior cervical discectomy with or without interbody fusion and arthroplasty in the treatment of cervical disc herniation; a double-blinded randomised controlled trial

Motion preserving anterior cervical disc arthroplasty (ACDA) in patients with cervical radiculopathy was introduced to prevent symptomatic adjacent disc degeneration as compared to anterior cervical discectomy and fusion (ACDF). Prior reports suggest that ACDF is not more effective than anterior cervical discectomy (ACD) alone for the treatment of cervical radiculopathy.

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Paramedic - Ventura EMS

++POSITION IDENTIFICATION++ Reports to:   Supervisor Employees Supervised/Directed:   None FLSA Code:   Non-Exempt ++POSITION PURPOSE AND SUMMARY++ Under the supervisor, the ideal incumbent will perform duties associated with providing emergency medical care to the sick and injured in accordance with all applicable laws, regulations, and Company policies. ++ESSENTIAL DUTIES AND RESPONSIBILITIES++ ++General ...

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NREMT announces all-time high for nationally certified EMS providers

More than 400,000 EMS providers are currently nationally certified at the EMR, EMT, AEMT or paramedic level

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The impact of a government shutdown on public safety

Here's a breakdown of who is considered "essential" and "nonessential" during a federal government shutdown

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Does medical marijuana have a place in EMS?

Our co-hosts discuss the pros and cons of industry personnel using medical marijuana to work through issues of depression, anxiety and post-traumatic stress

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Does medical marijuana have a place in EMS?

Our co-hosts discuss the pros and cons of industry personnel using medical marijuana to work through issues of depression, anxiety and post-traumatic stress

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Behavioural training and mirroring techniques to prepare elective anaesthesia in severe autistic spectrum disorder patients: an illustrative case and review

Summary

Children with autistic spectrum disorder are more likely to become distressed during induction of anaesthesia. Inhalational induction is almost always the preferred route with acceptance of the face mask often presenting a considerable challenge. Tempering measures to facilitate gas induction such as forced premedication and physical restraint are no longer viable options except in extenuating circumstances. Recent research interest has focused on the need for advanced planning in collaboration with the caregiver to tailor an individualised perioperative plan. This plan may include both pharmacological and non pharmacological interventions. Applied behaviour analysis strategies have a well documented efficacy in this unique population to systematically change an individual's usual behaviour. These can be used, as a non pharmacological strategy, to ensure a smooth perioperative course. We present a successful case of preoperative desensitisation of a child with severe autistic spectrum disorder using a mirror demonstration technique associated with positive reinforcement to prepare him for general anaesthesia. We discuss the potential application of applied behaviour analysis strategies for anaesthesia in this unique population. From a practical point of view, early communication with carers is required to establish who may benefit from this behavioural training. Planned individual preparation for general anaesthesia must be provided by trained multidisciplinary staff.

This article is protected by copyright. All rights reserved.



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Genome editing for disease locus dissection

Genome editing for disease locus dissection

Genome editing for disease locus dissection, Published online: 21 December 2018; doi:10.1038/s41576-018-0091-1

A new study uses haplotype editing to dissect the functions of a major genetic risk locus for cardiovascular disease.

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Editorial Board

Publication date: February 2019

Source: Journal of Environmental Radioactivity, Volume 197

Author(s):



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Improvement in hepatitis C virus patients with advanced, compensated liver disease after sustained virological response to direct acting antivirals

European Journal of Clinical Investigation

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The meta-group social network of early humans: A temporal–spatial assessment of group size at FLK Zinj (Olduvai Gorge, Tanzania)

Publication date: February 2019

Source: Journal of Human Evolution, Volume 127

Author(s): Manuel Domínguez-Rodrigo, Lucía Cobo-Sánchez, Julia Aramendi, Agness Gidna

Abstract

Humans are the only primates that maintain regular inter-group relationships and meta-group social networks that enable the inter-group flow of individuals. This is the basis of the band/tribe concept in the anthropology of modern foragers. The present work is a theoretical approach to the development of analytical tools to understand group size and the temporal scale of site occupation in the archaeological record. We selected FLK Zinj as one of the oldest examples of a taphonomically-supported anthropogenic site in which both variables (group size and time) could be modelled using a combination of modern forager regression estimates from their camp sizes and estimates derived from the combined use of modern African foragers' meat consumption rates per day per capita during the dry season and minimum estimates of flesh yields provided by the carcass parts preserved at FLK Zinj. This approach provides the basis for a testable hypothesis which should be further tested in other Oldowan sites. An estimate of 18–28 individuals occupying FLK Zinj was made, which is similar to the estimated 16 individuals of one of the 1.5 Ma Ileret Homo erectus footprint trails. It also shows a similar proportional distribution to Dunbar's equations (group size to neocortex ratio) as documented in modern foragers, which suggest that most of the social network of H. erectus was in the meta-group level as is the case of modern foragers. Irrespective of the range of variation discussed for both variables (group size and length of time represented), it is argued that neither small estimates of time nor small group sizes can account for the formation of FLK Zinj.



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Excavation, reconstruction and taphonomy of the StW 573 Australopithecus prometheus skeleton from Sterkfontein Caves, South Africa

Publication date: February 2019

Source: Journal of Human Evolution, Volume 127

Author(s): Ronald J. Clarke



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Neurophysiological prognosis in comatose patients after cardiac arrest: The Italian Multicentric Study (ProNeCA)

Publication date: January 2019

Source: Clinical Neurophysiology, Volume 130, Issue 1

Author(s): R. Carrai, A. Grippo, M. Lombardi, C. Minardi, E. Vitelli, L. Politini, F. Minicucci, O. Mecarelli, F. Valzania, R. Sabatini, A. Marelli, M.G. Celani, A. Amantini

SEPs are reliable predictor of poor outcome in comatose patients after cardiac arrest (CA). Recently also the role of EEG has been reassessed. To evaluate the prognostic value of EEG and SEPs association in post-anoxic coma at different recording time. We included comatose patients after CA. EEG and SEPs were recorded within 12 hs and at 72 hs after CA. EEG was classified into grade 1("continuous"/"nearly-continuous") and grade 2(discontinuous/burst-suppression/suppression/isoelectric). SEPs were dichotomized into "bilaterally absent" (BA) and "present". Outcome was evaluated at 6 months by GOS. "Recovery of consciousness" was considered good outcome. Ten centers took part to the study and 282 patients were included. EEG and SEPs were recorded in 141 within 12 hs in 162 at 72 hs. Grade 1 EEG at 12 hs always predicted good outcome, grade 2 pattern at 72 hs predicted poor outcome with higher predictive power. BA SEPs always predicted poor outcome. Grade 1 EEG was always associated with present SEPs. EEG is a reliable time-dependent predictor of good outcome (within 12 h) and poor outcome (after 72 h). SEP is time-independent predictor of poor outcome. Early grade 1 EEG is never associated with BA SEP. Early association recordings of EEG and SEPs increase of the reliability of prognosis prediction in post-anoxic coma.



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Steady-state visual evoked potentials in photosensitive patients with idiopathic generalized epilepsy

Publication date: January 2019

Source: Clinical Neurophysiology, Volume 130, Issue 1

Author(s): G. Strigaro, C. Pizzamiglio, A. Vinassa, G. Vaghi, B. Gori, C. Varrasi, R. Cantello

To assess the visual system excitability of photosensitive patients with idiopathic generalized epilepsy (IGE) with the steady-state flash visual evoked potential (SS-FVEP) technique. We studied 13 adult patients with IGE showing a photoparoxysmal electroencephalographic response (PPR). Twenty normal subjects of similar age and sex acted as controls. We recorded FVEPs from occipital electrodes (1–1000 Hz; 10 kHz) with eyes closed. Stimuli were 3 s trains of flashes delivered at 8 and 16 Hz. Eighty sweeps were collected for any stimulus type and averaged off-line. SS-FVEPs were analyzed in the frequency domain with a discrete Fourier transformation and the amplitude of the first (1H) and second harmonic (2H) were measured. In patients, at 16 Hz, a significant (p < 0.05) increase in the first and second harmonic amplitude (i.e. 16 and 32 Hz) was found compared to controls. No significant changes at 8 Hz were detected. The SS-FVEP technique documents significant changes in the visual system of photosensitive patients with IGE, whose features likely underlie the PPR development.



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Multi-centric longitudinal study on electrophysiological diagnostic and prognostic markers in prolonged disorders of consciousness

Publication date: January 2019

Source: Clinical Neurophysiology, Volume 130, Issue 1

Author(s): A. Estraneo, S. Fiorenza, O. Masotta, A. Grippo, A. Romoli, R. Formisano, D. Mattia, E. Angelakis, H. Cassol, A. Thibaut, O. Gosseries, S. Blandiaux, E. Noé, G. Lamberti, S. Bagnato, B.L. Edlow, C. Chatelle, N. Lejeune, M. Bartolo, V. Veeramuthu

Diagnostic accuracy and reliable assessment of prognosis are challenging in patients in vegetative state (VS) and in minimally conscious state (MCS). This longitudinal multi-centric study aims to identify neurophysiological patterns with diagnostic and prognostic value. 59 patients in VS and 63 in MCS underwent clinical assessment by Coma Recovery Scale-Revised3 and neurophysiological evaluations of EEG background activity and reactivity, somatosensory evoked potential (SEP) and event related potential (ERP) at ⩽3 months after brain-injury. Clinical outcome was evaluated at 6 months post-injury. EEG background activity and reactivity significantly differed between VS and MCS patients (p < .001), whereas the presence of cortical component N20 on SEP and P300 on ERP did not differ between the two groups. Good outcome was significantly more frequent in patients with moderately abnormal to normal EEG background activity than in patients with poor EEG background organization (p = .001), in patients showing EEG reactivity (p < .001) and in patients showing P300 (p = .016). The presence of SEP did not differ significantly between the two prognostic groups. Multimodal clinical and neurophysiological assessment could provide useful diagnostic and prognostic information for disorder of consciousness. This multicentric project calls for international standardization of diagnostic and prognostic procedures.



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Cutaneous denervation in Progressive Supranuclear Palsy

Publication date: January 2019

Source: Clinical Neurophysiology, Volume 130, Issue 1

Author(s): M. Nolano, V Provitera, G Caporaso, F. Manganelli, A. Stancanelli, G. De Michele, L. Santoro

Progressive Supranuclear Palsy (PSP) is a rare neurodegenerative disease characterized by intraneuronal accumulation of hyperphosphorylated Tau. Because PSP is strongly linked biochemically and genetically to tau protein abnormalities there is a growing interest in new tau-directed therapies and in the search of new biomarkers able to monitor disease progression. We studied cutaneous innervation in PSP in order to identify new biomarkers of nerve degeneration trough a minimally invasive technique such as skin biopsy. We performed 3 mm punch biopsies from thigh, leg and fingertip of 12 PSP patients (mean age = 68.4 ± 7.8). Samples were processed with indirect immunofluorescence using a large panel of antibodies to visualize and quantify sensory and autonomic cutaneous nerves. Results were compared with those obtained from a population of age and sex matched controls (mean age = 69 ± 3.3). In PSP patients, compared to controls, we found a severe length-dependent loss of intraepidermal nerve fibers associated to a severe loss of autonomic vasomotor, sudomotor and pilomotor nerves. Moreover, we observed a marked loss of Meissner corpuscles and intrapapillar myelinated endings in glabrous skin. The pattern of nerve degeneration appeared different compared to other neurodegenerative disorders. Skin may provide useful neuropathogical biomarkers to study PSP progression.



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Skin nerve phosphorylated α-synuclein deposits in Parkinson’s disease with orthostatic hypotension

Publication date: January 2019

Source: Clinical Neurophysiology, Volume 130, Issue 1

Author(s): V. Donadio, A. Incensi, F. Del Sorbo, G. Rizzo, R. Infante, C. Scaglione, N. Modugno, E. Fileccia, A.E. Elia, F. Cencini, R. Liguori

To investigate phosphorylated α-synuclein (p-syn) deposits in skin nerves of Parkinson's disease (PD) patients with neurogenic orthostatic hypotension (OH) and a PD matched group without dysautonomia. We enrolled 28 idiopathic PD patients with abnormal nigro-striatal DatScan and cardiac MIBG: (1) 14 of them complained of neurogenic OH (PD + OH); and (2) 14 matched patients did not complain of autonomic dysfunctions (PD-OH); 7 of them were re-evaluated over a follow-up (4 ± 2 years). Patients underwent skin biopsy in proximal (i.e. C7 paravertebral spine region) and distal (i.e. thigh and leg) sites. PD + OH showed a higher p-syn deposition than PD-OH with a widespread autonomic cholinergic and adrenergic skin nerves involvement. Over the follow-up PD-OH patients showed a marked increase in motor dysfunctions scores without autonomic symptoms and a slight increase of skin p-syn deposition but still lower than PD + OH. PD + OH showed a wide involvement of p-syn deposits in autonomic cholinergic and adrenergic skin nerves skin; (2) PD-OH showed a lower load of skin p-syn mainly restricted to adrenergic fibers of skin vessels, still persisting over a follow-up. These data supported a different pathogenesis between PD + OH and PD-OH and may help to identify a specific diagnostic trait for PD + OH patients.



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Adaptive Deep Brain Stimulation for Parkinson’s disease: Safety and effectiveness

Publication date: January 2019

Source: Clinical Neurophysiology, Volume 130, Issue 1

Author(s): T. Bocci, M. Arlotti, S. Marceglia, M. Prenassi, G. Ardolino, F. Cogiamanian, L. Borrellini, P. Rampini, M. Locatelli, S. Barbieri, A. Priori

Deep Brain Stimulation (DBS) is an effective therapy for Parkinson's disease (PD). We assessed the effectiveness of adaptive DBS (aDBS), that uses beta-band power of the subthalamic Local Field Potentials (LFPs) as target to adapt DBS parameters to motor fluctuations. In a first experiment, aDBS plus levodopa versus levodopa alone was studied; in a second phase, we evaluated aDBS versus cDBS. The experiments took place 5 days after implantation and lasted 2 days (Day 5 and 6, eight hours per day). Changes in the Unified Parkinson's Disease Rating Scale (UPDRSIII) and Rush Dyskinesia Rating Scale were assessed. In the first experiment, in Day 5 DBS was turned OFF, while in Day 6 aDBS stimulation was turned on. In the second, cDBS was turned ON during Day 5 and aDBS turned ON during Day 6. aDBS improved UPDRSIII score compared to levodopa (three-way ANOVA, "day"x"medication" p = 0.003). Rush-DRS score from baseline was lower in aDBS patients than in cDBS (Wilcoxon-Mann-Whitney test: p < 0.005), although UPDRSIII was comparable (UPDRSIII mean variation, Day 5: 55.69 ± 5.16%; Day 6: 42.66 ± 4.14%).

aDBS was effective in controlling the patients PD symptoms in addition to the normal Levodopa therapy, reducing dyskinesias compared to cDBS.



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Spinal Direct Current Stimulation (tsDCS) in Hereditary Spastic Paraplegias (HSP): A sham-controlled crossover study

Publication date: January 2019

Source: Clinical Neurophysiology, Volume 130, Issue 1

Author(s): T. Bocci, G. Ardolino, M. Nigro, M. Vergari, A. Di Fonzo, S. Bonato, F. Cogiamanian, F. Sartucci, S. Barbieri, A. Priori

Hereditary spastic paraplegia (HSP) comprises a heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and lower limb weakness. We assessed the effects of transcutaneous spinal direct current stimulation (tsDCS) in HSP. Motor evoked potentials, H-reflex, Patellar tendon reflex (T-reflex), F-waves, the Ashworth scale for clinical spasticity, the 5'-walking test and the Spastic Paraplegia rating scale were assessed. tsDCS (anodal or sham, 2.0 mA, 20 min, 5 consecutive days) was delivered over the lower thoracic spinal cord (T10-T12). Patients were evaluated before tsDCS (T0), immediately at the end of the stimulation (T1), and one week (T2), one month (T3) and two months (T4) after tsDCS. Whereas T-reflex area increased after sham intervention, it was unchanged after anodal tsDCS (p = 0.0088). T-reflex latency also was modulated by the two different polarities (T2: p = 0.0139). A significant improvement in the Ashworth scores was observed in the anodal group at T1 (p = 0.0137) and T4 (p = 0.0244), but not in the 5′-walking test and SPRS. Anodal tsDCS prevented the progressive increase of spinal cord excitability that naturally occurred during disease progression. tsDCS might be a complementary strategy for the treatment of spasticity in HSP.



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Cortical changes detected with MEG in Tourette syndrome following Δ9-tetrahydrocannabinol challenge test

Publication date: January 2019

Source: Clinical Neurophysiology, Volume 130, Issue 1

Author(s): D. Rossi Sebastiano, D. Calandrella, E. Visani, A. Granvillano, S. Dotta, L.M. Romito, F. Panzica

Cannabinoids have surged as potential therapeutic drugs in neurological disorders, especially in movement disorders. We investigated the responsivity to Δ9-tetrahydrocannabinol (THC) of a 43-years-old woman affected by Tourette Syndrome (TS). To reveal cortical changes induced by THC and correlating with the decrease of tics, we acquired magnetoencephalography (MEG) during a Go/No Go (GNG) task, before and after THC administration. To characterize the modulation of cortical activity, the event-related desynchronization/synchronization (ERD/ERS) analysis was applied. To localize the source related to frequency of interest, the Dynamical Imaging of Coherent Sources method was applied4 contrasting two periods of interest ('Go' and 'no Go' conditions). In 'Go' condition, no differences between pre and post THC was noticed. In 'No go' condition, after the THC intake, a decrease in beta band activity of cortical motor areas was followed by a noteworthy increase of beta activity within 1s after the presentation of the cue, correlated with an amelioration of tics control. Our findings showed that the increased tics control after THC intake was associated to a restoration of the ERD/ERS (namely beta synchronization) involving precentral and postcentral gyri, thus highlighting that THC-induced modifications impacted on cortical motor circuitries.



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