Myopathology of Congenital Myopathies: Bridging the Old and the New

Congenital myopathies (CM) are a genetically heterogeneous group of neuromuscular disorders most commonly presenting with neonatal/childhood-onset hypotonia and muscle weakness, a relatively static or slowly progressive disease course, and originally classified into subcategories based on characteristic histopathologic findings in muscle biopsies. This enduring concept of disease definition and classification based on the clinicopathologic phenotype was pioneered in the premolecular era. Advances in molecular genetics have brought into focus the increased blurring of the original seemingly “watertight” categories through broadening of the clinical phenotypes in existing genes, and continuous identification of novel genetic backgrounds. This review summarizes the histopathologic landscape of the 4 “classical” subtypes of CM—nemaline myopathies, core myopathies, centronuclear myopathies, and congenital fiber type disproportion and some of the emerging and novel genetic diseases with a CM presentation

Importance of etiologic diagnosis of hydrocephalus as illustrated by a case of Walker Warburg syndrome

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Prenatal diagnosis of congenital high airway obstruction syndrome: our experience from a tertiary care center

Congenital high airway obstruction syndrome (CHAOS) is an extremely rare and life-threatening condition. It occurs due to obstruction in fetal respiratory tract and is characterized by typical ultrasonographic findings. Risk of recurrence is low, so antenatal diagnosis can help in counselling regarding risk of recurrence. A retrospective record review of all cases referred to our institution for antenatal ultrasound over a period of 5 years from January, 2014 to December, 2018 was done. Cases diagnosed as CHAOS were reviewed in detail regarding the radiological findings, information regarding delivery, fetal karyotype and postnatal/ fetal examination. Between the period of 2014 to 2018 three fetuses with CHAOS were identified. All of them had characteristic radiological features. Two of them were associated with hydrops and one fetus had oligohydramnios. All the pregnancies were terminated after antenatal diagnosis. Amniocentesis was done in 2 out of 3 cases and fetal karyotype was found to be normal. Fetal autopsy was done in one case and site of upper airway obstruction was identified. Confirmation of diagnosis by antenatal ultrasound and if possible, by post-mortem examination is essential for providing estimation of risk of recurrence to the family and genetic counselling

Study of interaction of nifedipine with haloperidol on conditioned avoidance response and catalepsy in rats

Background: To study the interaction of calcium channel blocker (Nifedipine) with Antipsychotic drug (Haloperidol) on Conditioned avoidance Response and catalepsy in Rats.Methods: Every group consisted of 10 healthy albino rats of either sex. Different groups received Nifedipine (5, 10 & 20 mg/kg, i.p.), Haloperidol (ED50 -0.2mg/kg for CAR & 0.4mg/kg for catalepsy) alone and combined doses of both drugs. The Antipsychotic effect of drugs was measured by Conditioned avoidance response (CAR) using Cook’s Pole climbing apparatus and Adverse drug effect (Extra pyramidal syndrome) was measured by Catalepsy.Results: 5 mg/kg i.p. of Nifedipine inhibited CAR in 50 % of Rats (compared to control, p<0.001). 10mg/kg i.p. of Nifedipine inhibited CAR in 60% of Rats (p<0.001) & 20 mg/kg i.p. inhibited CAR in 70% of Rats (p<0.001). When Nifedipine (5 mg/kg i.p) was combined with Haloperidol ED50-0.2mg/kg  the CAR was inhibited in 70% of the rats (p<0.01) and after combining Nifedipine (10mg/kg) with Haloperidol ED50-0.2mg/kg the CAR was inhibited in 80% Rats (p<0.001). Nifedipine at the dose of 5 mg/kg and 10 mg/kg (i.p.) did not induce catalepsy in the rats at any testing time interval.  At 20 mg/kg i.p., it produced catalepsy in 2 rats at half hour and in 4 rats at 1 hour and 2 hour testing interval each (p<0.01). In the dose of 5, 10 and 20 mg/kg, pretreatment with Nifedipine significantly increased Haloperidol induced cataleptic scores at all testing intervals (p<0.05).Conclusions: Nifedipine blocked CAR. Its higher doses induced catalepsy and it is synergistic with haloperidol in blockade of CAR and catalepsy

Hemihyperplasia isolated

Review on Hemihyperplasia isolated, with data on clinics, and the genes involved

Suprasellar epidermoid cyst: a rare cause of painless progressive bilateral vision loss-case report with clinico-radiological correlation

Intracranial epidermoid cysts are relatively rare lesions. They result from inclusion of ectodermal elements during time of neural tube closure. This lesion could rarely be acquired due to post-surgical or post traumatic implantation of the ectodermal components. They typically present in middle age group patients with evidence of loco-regional mass effect on adjacent structures. We present a clinico-radiological case report of the 27-year-old female patient who presented with painless progressive bilateral vision loss for last 4 months

Enhanced visible fluorescence in highly transparent Al-doped ZnO film by surface plasmon coupling of Ag nanoparticles

ZnO:Al (AZO) film has been deposited on quartz substrate by Pulsed laser deposition and showed monophasic hexagonal structure of c-axis oriented nanorods upto 80 nm in height. AZO film was optimally conjugated with Ag nanoparticles (Ag NPs) in a hybrid nanostructure to achieve significant enhancement in the visible fluorescence emission. Augmented near field and extinction spectra of shape tailored Ag NPs and their dimers are simulated through FDTD method, and a direct association with fluorescence enhancement is established. Such plasmon-enhanced visible emission from a transparent conducting oxide could be very important for solar cell applications

Simplified Burn-Rate Model for CMDB Propellants

A single model has been proposed to predict the burning rates of bimodal AP,RDX and aluminum containing CMDB propellants. This is done in terms of the respective physical constants on the basis of a recently developed model of combustion of CMDB propellants. The study has been carried out to examine the effects of changes in propellants composition, AP particle size and pressures on burning rate. Computer programs were developed for this purpose and the results obtained for typical sets of input data have been presented and compared with the actual results

Curious case of corpus callosal hematoma in a normotensive post-partum female patient: a case report of reversible post-partum angiopathy with clinico-radiological correlation

Postpartum cerebral angiopathy (PCA) is a rare cause of stroke in the puerperium. It usually presents with episodes of headache, seizures and neurological deficits in early post-partum period in normotensive females. CT, MRI and catheter angiography may demonstrate segmental vasoconstriction that often resolves spontaneously. PPA is generally regarded as a benign, non-relapsing and reversible disease process. We present a clinico-radiological correlative case of isolated corpus callosal hematoma in a post-partum normotensive female with evidence of intracranial vascular spasm and luminal irregularity on CT and catheter angiography. Follow up MR angiography showed resolution of the vasospasm and luminal irregularity. Patient was managed conservatively and showed resolution of the symptoms in follow up visit on 8th week.

Jarcho-Levin syndrome

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