How Families Manage the Complex Medical Needs of Their Children with Duplication Syndrome.

duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 () gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.

One month of nitrous oxide abuse causing acute vitamin B deficiency with severe neuropsychiatric symptoms.

A 21-year-old university student studying abroad in the USA presented to the emergency department with double vision, lower extremity weakness with difficulty ambulating and other neuropsychiatric symptoms. MRI of the brain and spinal cord were normal. Vitamin B was 78 pg/mL (58 pmol/L, reference 211-911 pg/mL).

An evidence rating service provided valid correlates of the clinical importance of medical articles and journals.

Objectives: The objective of this study was to determine reliability and validity of McMaster PLUS measures of scientific merit and clinical importance of articles in medical journals.

Study Design And Setting: Analytic survey of peer-reviewed medical journals was carried out. Articles were qualified for inclusion by meeting (1) scientific criteria and (2) a clinical importance rating threshold.

Preoperative determination of tibial nail length: An anthropometric study.

Objective: To assess the correlation between five anthropometric parameters and the distance from tibial tuberosity to medial malleolus in 100 volunteers.

Methods: Six anthropometric parameters were measured in 50 male and 50 female medical students using a metallic scale: medial knee joint line to ankle joint line (K-A), medial knee joint line to medial malleolus (K-MM), tibial tuberosity to ankle joint (TT-A), tibial tuberosity to medial malleolus (TT- MM), olecranon to 5th metacarpal head (O-MH) and body height (BH). Nail size predicted based upon TT-MM measurement was chosen as ideal nail size.

Nonoperatively treated infraglenoid tubercle avulsion.

Infraglenoid tubercle avulsion fractures are extremely rare injuries. We report a 38-year-old male with glenoid cavity fracture and infraglenoid tubercle avulsion of the left shoulder following a fall from bike. He refused surgery and was treated nonoperatively.

Safety and efficacy of combination immunotherapy with interferon alfa-2b and tremelimumab in patients with stage IV melanoma.

Purpose: We tested the hypothesis that the combination of tremelimumab and interferon alfa-2b acting via different and possibly synergistic mechanisms would overcome tumor immune tolerance and lead to significant and durable clinical responses.

Patients And Methods: We conducted a phase II study in which patients were administered tremelimumab 15 mg/kg/course (three cycles [one cycle = 4 weeks]) intravenously every 12 weeks. High-dose interferon alfa-2b (HDI) was administered concurrently, including intravenous induction at 20 MU/m2/d for 5 d/wk for 4 weeks followed by maintenance at 10 MU/m2/d subcutaneously three times a week for 8 weeks per course.

Detection and genetic diversity of human metapneumovirus in hospitalized children with acute respiratory infections in India.

Human metapneumovirus (hMPV) causes acute respiratory infections in children and adults. It is classified into two major genetic lineages and each lineage into two sublineages. The purpose of the study was to identify and characterize hMPV in children who presented to the All India Institute of Medical Sciences, New Delhi, India with acute respiratory infection from April 2005 to March 2007.

Respiratory viral infections detected by multiplex PCR among pediatric patients with lower respiratory tract infections seen at an urban hospital in Delhi from 2005 to 2007.

Background: Acute lower respiratory tract infections (ALRI) are the major cause of morbidity and mortality in young children worldwide. Information on viral etiology in ALRI from India is limited. The aim of the present study was to develop a simple, sensitive, specific and cost effective multiplex PCR (mPCR) assay without post PCR hybridization or nested PCR steps for the detection of respiratory syncytial virus (RSV), influenza viruses, parainfluenza viruses (PIV1-3) and human metapneumovirus (hMPV).

Atypical takotsubo cardiomyopathy: dobutamine-precipitated apical ballooning with left ventricular outflow tract obstruction.

Takotsubo cardiomyopathy, or transient apical ballooning syndrome, is a recently recognized form of transient left ventricular dysfunction that is presumably caused by stress. Takotsubo cardiomyopathy can clinically resemble an acute coronary syndrome. Reported cases have been preceded by emotional stress or medical illness.

Can takotsubo cardiomyopathy be familial?

Takotsubo cardiomyopathy is a form of reversible left ventricular dysfunction that is presumably precipitated by stress. Our observations of the recurrence of takotsubo cardiomyopathy in an individual and the occurrence of a reversible cardiomyopathy in her daughter lead us to speculate on the possibility of a familial predisposition to this entity or its variants.

Recurrence of stress-induced (takotsubo) cardiomyopathy.

Takotsubo cardiomyopathy is a recently recognized form of transient left ventricular dysfunction that is presumably precipitated by stress and may clinically resemble an acute coronary syndrome. These patients have an akinetic left ventricular apex in an unusual shape that resembles a takotsubo. Although reports of single episodes of takotsubo cardiomyopathy are not infrequent in recent medical literature, we report a case of recurrence that may provide more insight into the nature of this syndrome.