A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-exome sequence uncovered a novel de novo mutation in the purine-rich element binding protein A gene (PURA; NM_005859.4:c.72del:p.(- Gly25AlafsTer53)) that encodes the transcriptional activator protein Pur-alpha (PURA). Mutations in this gene have been identified in patients with PURA syndrome, a rare disorder characterized by an early hypotonia, developmental delay, severe intellectual disability with or without epilepsy, and disability in expressive language development. Although, up to 75 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with a brainstem larger than normal. In conclusion, our data expand both genetic and phenotypic spectrum associated with PURA gene mutations.

Effect of Muravvaq of Mako, Muravvaq of Kasni and Muravvaqain on hepatotoxicity induced by rifampicin in rats just after rainy season [August-September]

To assess the hepatoprotective activity of Muravvaq of Mako, Muravvaq of Kasni and Muravvaqain frothless juice of Mako [Solanum nigrum] leaves, and Kasni [Cichorium intybus] leaves and collectively leaves of both plants on Rifampicin-induced hepatotoxicity in Wistar albino rats. Hepatotoxicity was induced in rats by Rifampicin given orally as suspension for 30 days. Concurrent group received Muravvaq of Mako, Muravvaq of Kasni and Muravvaqain alongwith Rifampicin. In the second phase of study the effect of Muravvaq of Mako, Muravvaq of Kasni and Muravvaqain on established hepatotoxicity was studied by giving the Muravvaq of Mako, Muravvaq of Kasni and Muravvaqain for 20 days after withdrawal of Rifampicin. Hepatic dysfunction was assessed by biochemical and histological parameters. Muravvaq of Mako, Muravvaq of Kasni and Muravvaqain significantly [p<0.05] prevented changes in the serum levels of bilirubin, SGOT, SGPT and SALP. Similarly it significantly prevented the histological changes as compared to the group receiving Rifampicin. It also significantly reversed the biochemical and histological changes

Effect of supari chikni [areca catechu], mochras [salmah malabarica], chhal molsari [mimusops elen.], barg-e-kasni [cichorium intybus] and gul-e-dhawa [woodfordia floribunda] on sailan-ur-reham taffuni [infected vaginal discharge] a clinical study

According to Unani System of Medicine, Sailan-ur-Reham [vaginal discharge] means a discharge which passes through the vagina, it may be blood stained or otherwise. The vaginal discharge can be of physiological or pathological type. Pathological discharge is further divided into leucorrhoea and inflammatory discharge [due to infections of vagina-cervix-uterus]. In our study cases of Sailan-ur-Reham Zltihabi [due to certain specific infections] were put on a compound formulation [in form of vaginal tablet of 1 gm] for clinical trial on single blind technique. Vaginal pessary was given to patients for vaginal insertion daily at night for about two weeks. The study was carried out in 45 patients aged 21-50 yrs. Patients were divided into two groups. The control group was treated with placebo. The test group was treated with the test drug in form of vaginal tablet for fifteen days at bedtime, the outcome was assessed by symptoms, clinical examination and investigation. The drug combination produced significant improvement in the disease

Glomerulonefritis aguda en niños / Acute glomerulonephritis in children

Se analizan las características clínicas de 149 niños con Glomerulonefritis aguda post-estreptocócica (GNAPE), atendidos en la Clínica Infantil Dr. Robert Reid Cabral de Santo Domingo. El 60% de los pacientes eran varones y el 40% eran hembras. El mayor número de enfermos, 88 casos, 60% de la población estudiada, tenía entre 4 y 8 años de edad. Los signos predominantes fueron el edema y la hematuria, 95 y 81 por ciento respectivamente. La hipertensión arterial se registró en el 76% de los casos. La complicación más común fue la insuficiencia cardíaca, la que se documentó en el 23% de los enfermos. El 5.3% de los niños desarrolló edema agudo de pulmón. La encefalopatía hipertensiva y la insuficiencia renal aguda se observaron en el 2.6 y el 1.3% respectivamente y la mortalidad registrada en la fase aguda de la enfermedad, fué de 2.6%