Sphingolipidoses in Morocco: Chemical profiling for an affordable and rapid diagnosis strategy.

Sphingolipidoses are a group of metabolic diseases in which lysosomal hydrolases dysfunction disrupt normal sphingolipids' metabolism, leading to excess accumulation in cellular compartments and excretion in urine. These pathologies represent a significant burden among Moroccan population, for which an easy access to enzymatic assays and genetic tests is not guaranteed. Parallel analytical methods thus have to be developed for preliminary screening. In this study, 107 patients were addressed to the metabolic platform of the Marrakesh Faculty of Medicine for diagnosis confirmation. Thin-Layer Chromatography was used as a first step to perform chemical profiling of the patients' urinary lipids, allowing 36% of the patients to be efficiently oriented towards the adequate enzymatic assay. UPLC-MS/MS analyses of urinary sulfatides excreted in urines patient had been used to control the reliability of TLC analysis and to obtain more accurate information related to the sulfatides isoforms. This analytical process combining TLC with UPLC-MS/MS has enabled rapid and appropriate patient management in a reduced time and with reduced resources.

Tailored Skull Base Approach to Management of Intracranial Aneurysms.

Surgical management of intracranial aneurysms (IAs) remains one of the most challenging and dynamic tasks for neurosurgeons. The rivalry between modern time microsurgery and progress in endovascular intervention has provided a great arena for advancement and lead to redefine training concept and referral pattern. Both approaches has its own merits, risks and complications and the best outcome is achieved by case individualization and complimentary multidisciplinary approach.The recent innovation in microscopic and endoscopic tailored skull base approaches, intraoperative 3D and ICG video-angiography, design of high quality aneurysm clips, and refinement of cerebral bypass techniques enhance IAs neurosurgical management and their clinical outcome. The command of tailored skull base approaches should be part of the training curriculum of young generation of neurosurgeons to compliment the emerging treatment options of endovascular intervention.

Thrombosis of the abdominal aorta in newborn: About two cases.

BACKGROUND: Aortic thrombosis in neonates is a rare phenomenon, and in most cases iatrogenic. An early recognition of the clinical features and an immediate intervention can offer a better prognosis, and thus preventing morbidity such as limb amputation, and even mortality. METHODS: We present two cases of full-term newborns with a thrombosis of the abdominal aorta hospitalized in the neonatal intensive care unit of Mohammed VI University Hospital in Marrakech in 2017 and 2019. RESULTS: The two patients presented swelling and cyanotic lower limbs. Doppler ultrasound revealed a pathological lower limb blood flow as a result of a thrombosis of the abdominal aorta. Both patients underwent an anticoagulant therapy, the first one benefited from a surgical thrombectomy, he developed a reperfusion syndrome with alveolar hemorrhage, and passed away as a result of a cardiorespiratory arrest. However the second patient got amputated of the right foot, his clinical evolution was favorable with a good healing of the surgical wound without recurrence of any thrombosis. CONCLUSION: Through those cases clinicians should be aware of the first clinical signs of this condition in order to offer a rapid and successful management.

Rathke cleft cyst apoplexy: Hormonal and clinical presentation.

BACKGROUND: Rathke cleft cyst (RCC) apoplexy is an uncommon type of lesion that is challenging to diagnose without histopathological samples. Very few articles have been published describing the details of RCC apoplexy. We studied a good number of published articles to analyze its demographics, clinical and hormonal presentations, and outcomes. METHODS: A literature review of English language publications about RCC apoplexy or pituitary apoplexy was conducted using Medline and EMBASE search engines. Thirty articles with histological diagnosis of RCC apoplexy were identified, the earliest of which was published in 1990 and the latest in 2019. We combined the findings of these articles with our own case report and then compared the demographics, clinical and hormonal presentations, and outcomes between RCC apoplexy and pituitary adenoma apoplexy. RESULTS: Our data included 29 patients with RCC, with a mean age of 36.87 years (8-72) and a predominance of female patients (68%). The hemorrhagic type was most common, reported in 86%. Headache was the most common presenting symptom, being reported in 93% followed by hypogonadism (73%) and hormonal deficits (52%). All but three patients improved neurologically (90%); however, 45% of patients required long-term hormonal replacement, mostly thyroid hormone. No cases of worsening neurological or hormonal status were reported. CONCLUSION: RCC apoplexy presents with less severe neurological and hormonal abnormalities than pituitary adenoma apoplexy; it also has a better prognosis in endocrine functional recovery. We recommend applying current management guidelines of pituitary adenoma apoplexy to RCC apoplexy.

The effect of radiation therapy and chemotherapy on malignant craniopharyngioma: A review.

BACKGROUND: Malignant craniopharyngioma is a rare tumor with few published case reports. It can form de novo or transform from a benign variant and is associated with a dismal survival rate. We reviewed the literature for all published cases and studied the effect of radiation on the rate of malignant transformation. We analyzed the effect of chemotherapy on survival. METHODS: We used various search engines to locate literature from 1980 onward and identified 31 case reports, one of which was excluded. Statistical analysis using the SAS software was conducted, and a significant value was identified if P < 0.05. RESULTS: There was equal distribution among male and female patients. The average age at malignant diagnosis is 31.11 years (±15.16) and 12.19 years (±8.41) for the average interval of benign tumor progression to malignancy. The most common clinical presentation was visual loss and/or field deficits in 26/30 patients (86%). Almost 11/30 patients (37%) had endocrinological deficits, with panhypopituitarism as the most common in 8/11 patients (73%). Fifteen patients received radiation before malignant transformation (47%) and demonstrated no effect on malignant transformation (P = 0.379). Gross total resection was achieved in 2/30 patients. The average time to mortality postoperatively is 5.3 months ± 4.3. Ten patients received chemotherapy, and five were alive at last follow-up (P = 0.115). CONCLUSION: Malignant craniopharyngioma carries a dismal prognosis with no apparent benefits of radiation therapy and chemotherapy on survival.

The influence of aging on the association between adiposity and bone mineral density in Jordanian postmenopausal women.

The objective of this study was to assess the relative association between body weight, body mass index (BMI), lean mass (LM) and fat mass (FM), and bone mineral density (BMD) in a group of Jordanian postmenopausal women and investigate if this possible association changes with age. A total of 3256 patients had dual-energy X-ray absorptiometry (DXA) scan in the period from January 2009 till January 2012 at the Radiology and Nuclear Medicine Department of Jordan University Hospital. Only 584 women met the selection criteria. Age has been recorded, and patients were divided into subgroups according to age. Body weight and height were measured, and BMI was calculated. Body composition (LM, FM, percentage of android fat, and percentage of gynoid fat) was assessed by DXA. BMD of the lumbar spine (L1-L4) and femoral neck was measured by DXA. Weight, BMI, FM, LM, percentage of android fat, and percentage of gynoid fat were positively correlated to BMD at both lumbar spine and femoral neck. However, this correlation disappeared at the age of 70 yr at lumbar spine and 75 yr at femoral neck. This study suggests that both FM and LM are important determinants of BMD in Jordanian postmenopausal women, and this correlation disappears after the age of 70 yr at lumbar spine and 75 yr at femoral neck.

Diagnostic yield of stereotactic brain biopsy.

OBJECTIVE: To evaluate the diagnostic yield, accuracy, and safety of frame-based stereotactic brain biopsy procedures. METHODS: A retrospective study of all pathologically diagnosed intracranial lesions, using frame-based stereotactic guided brain biopsy procedures performed at King Faisal Specialist Hospital and Research Centre (KFSH&RC), Riyadh, Kingdom of Saudi Arabia between 1993 and 2005 was conducted. Medical charts, radiological studies, and pathological slides were reviewed. RESULTS: A total of 120 consecutive patients who had frame-based stereotactic diagnostic biopsy procedures were identified. Data regarding procedural techniques, lesion locations, pathological diagnosis, and postoperative complications were collected. Patients` ages ranged from 3-72 years (mean +/- standard deviation: 39.4 +/- 20.3), 67 males and 53 females. Sites of biopsied lesions included: 49 thalamic, 29 deep frontal, 23 parietal, 9 temporal, and 10 others. Targeting accuracy was 99.2%. General anesthesia was used in 103 patients (85.8%). The rest was carried out under local anesthesia. Diagnostic yield was estimated at 96%. Most frequently encountered pathological diagnosis includes gliomas (63%), infections (16%), and lymphomas (7%). One mortality (0.8%), and 5 (4%) morbidities were encountered. CONCLUSION: Stereotactic brain biopsy is a relatively safe technique to obtain a tissue biopsy that represents the pathology of the lesion. Recent advances in stereotactic neurosurgical techniques have helped to improve the safety and diagnostic yield of such procedures.

Pegylated interferon alpha-2b plus ribavirin in patients with genotype 4 chronic hepatitis C: The role of rapid and early virologic response.

UNLABELLED: In patients chronically infected with hepatitis C virus (HCV) genotype 4, the optimum duration of therapy and the predictors of sustained virologic response (SVR) have not been adequately determined. In this study, 358 patients with chronic hepatitis C genotype 4 were randomly assigned to pegylated interferon (PEG-IFN) alpha-2b (1.5 mug/kg/week) plus oral ribavirin (10.6 mg/kg/day) for a fixed duration of 48 weeks (control group, n = 50) or for a variable duration (n = 318). In the variable-duration group, patients with undetectable HCV RNA at week 4 were treated for 24 weeks (group A, n = 69), patients with undetectable HCV RNA at week 12 were treated for 36 weeks (group B, n = 79), and the rest of the patients were treated for 48 weeks (group C, n = 160). The primary endpoint was SVR (undetectable HCV RNA 24 weeks after treatment cessation). Groups A-C and the control group had SVR rates of 86%, 76%, 56%, and 58%, respectively. After the study was controlled for predictors, a low baseline histologic grade and stage were associated with SVR (P < 0.029) in all groups. In addition, among patients in group C, older age (P = 0.04), a higher baseline body mass index (P = 0.013), and low baseline HCV RNA (P < 0.001) were also associated with SVR attainment. The incidence of adverse events and the rate of discontinuation were higher in patients in the variable-duration and fixed-duration groups treated for 48 weeks. CONCLUSION: In patients with chronic hepatitis C genotype 4 and undetectable HCV RNA at weeks 4 and 12, treatment with PEG-IFN alpha-2b and ribavirin for 24 weeks and 36 weeks, respectively, is sufficient.

Type I congenital multiple intraspinal extradural cysts associated with distichiasis and lymphedema syndrome.

OBJECTIVE: The hereditary syndrome of multiple congenital intraspinal cysts associated with distichiasis, lymphedema and other congenital deformities is extremely rare. Modern imaging techniques have promoted the non-invasive diagnosis of spinal pathology and paved the way for better surgical planning. We reviewed the clinical data, imaging studies and treatment outcomes of a 12-year-old boy with this syndrome. CLINICAL PRESENTATION: Progressive spastic paraparesis with signs of spinal cord compression leading to frequent falls. This was associated with bilateral double row of eyelashes and pretibial edema. The MRI of thoracic spine depicted two large elongated extradural lesions extending from D5-D10 with signal intensity compatible with cerebrospinal fluid leading to severe compression of the spinal cord dorsally. TREATMENT: Laminotomy and complete microsurgical excision of the cysts resulted in a fast and full clinical recovery of his neurological deficit. CONCLUSION: Type I congenital intraspinal cysts is a rare etiology of cord compression syndrome and may be associated with distichiasis, lymphedema and other congenital deformaties. It has several characteristics, which include the higher incidence in thoracic spine and younger age group, disproportional sever motor deficit as compared with sensory disturbances and the excellent clinical recovery following successful surgical treatment.

Expression profiling of reciprocal maize hybrids divergent for cold germination and desiccation tolerance.

Recombinant inbred lines (RILs) derived from B73 x M017 were screened for cold germination (CG) and desiccation tolerance (DT) phenotypes. Reciprocal F(1) hybrids were made between divergent RILs, and hybrids that showed differential phenotypes (parent-of-origin effect) for CG or DT were selected for profiling mRNA and protein expression. mRNA and proteins were extracted from embryo axes of seed germinated for 11 d at 12.5 degrees C in the dark and developing embryos at 40% seed moisture (R5 stage) for CG and DT, respectively. GeneCalling analysis, an open-ended mRNA profiling method, identified 336 of 32,496 and 656 of 32,940 cDNA fragments that showed >or=1.5-fold change in expression between the reciprocal F(1) hybrids for CG and DT, respectively. Protein expression map (PEM) analysis, an open-ended two-dimensional polyacrylamide gel electrophoresis, identified 117 of 2,641 and 205 of 1,876 detected proteins to be differentially expressed with >or=1.5-fold change between the reciprocal F(1) hybrids in CG and DT samples, respectively. A subset of these proteins was identified by tandem mass spectrometry followed by database query of the spectra. The differentially expressed genes/proteins were classified into various functional groups including carbohydrate and amino acid metabolism, ion transporters, stress and defense response, polyamine metabolism, chaperonins, cytoskeleton associated, etc. Phenotypic analysis of seed from self-pollinated ears of the reciprocal F(1) hybrids displayed small differences compared with the reciprocal hybrids themselves, suggesting a negligible effect of cytoplasmic factors on CG and DT traits. The results provide leads to improving our understanding of the genes involved in stress response during seed maturation and germination.