Ellis-van Creveld syndrome: a case report.

Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, is a rare entity. It most commonly affects the tubular bones leading to dwarfism and a long trunk with ossification defects. Other presentations are wide hands and feet, dysplastic nails, thin hair, and cardiac malformations. An eight-year-old female patient presented to our tertiary care centre with complaints of short stature, abnormal dentition, and fatigue. The child's parents were first-degree relatives. On radiological imaging, it was revealed that the patient had postaxial polydactyly, short stature, and genu valgum deformity along with mild cardiomegaly. All these features were indicative of Ellis-van Creveld syndrome. EVC is a rare clinical syndrome with a distinctive clinical presentation. It requires comprehensive radiological investigations and the management is best done with a multidisciplinary approach.

The Landscape of Currently Enrolling Maintenance Trials in Multiple Myeloma.

Maintenance therapies in multiple myeloma improve survival after induction treatment. This study characterizes the strategies for maintenance therapy being employed in currently enrolling clinical trials for patients with multiple myeloma and highlights how high-risk myeloma patients may be assigned to maintenance strategies incongruent with current US guidelines.

Robinow Syndrome: A Rare Diagnosis from Pakistan.

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A comprehensive review of the impact of obesity on plasma cell disorders.

Multiple myeloma (MM) remains an incurable plasma cell malignancy. Although little is known about the etiology of MM, several metabolic risk factors such as obesity, diabetes, poor nutrition, many of which are modifiable, have been linked to the pathogenesis of numerous neoplasms including MM. In this article, we provide a detailed summary of what is known about the impact of obesity on the pathogenesis of MM, its influence on outcomes in MM patients, and discuss potential mechanisms through which obesity is postulated to influence MM risk and prognosis. Along with advancements in treatment modalities to improve survival in MM patients, focused efforts are needed to prevent or intercept MM at its earliest stages. The consolidated findings presented in this review highlight the need for clinical trials to assess if lifestyle modifications can reduce the incidence and improve outcomes of MM in high-risk populations. Data generated from such studies can help formulate evidence-based lifestyle recommendations for the prevention and control of MM.

Pulmonary Langerhans Cell Histiocytosis Associated with Bronchogenic Carcinoma.

Pulmonary Langerhans cell histiocytosis (PLCH, pulmonary eosinophilic granuloma) is a rare disease of clonal dendritic cells that primarily affects adults who smoke cigarettes. PLCH association with other malignancies is rarely reported. Herein, an unusual case of PLCH is presented with synchronous lung adenocarcinoma. A 76-year-old woman and chronic smoker was admitted for persistent dyspnea and productive cough, and had a left lower lung mass detected by computed tomography. She underwent bronchoscopy with biopsies. Histopathological analysis was negative, but cultures grew Mycobacterium avium complex. She subsequently underwent lobectomy and was found to have papillary adenocarcinoma with PLCH in the surrounding lung nodules.

Health related quality of life of home dwelling vs. nursing facility dwelling elderly - A cross-sectional study from Karachi, Pakistan.

With the elderly population increasing in numbers, their demand of adequate medical and psychological care is also rising up. The key goal of promoting physical and mental health in elderly is maintenance of adequate health-related quality of life (QOL). A cross-sectional, descriptive study was conducted from December 2016 to February 2017 among 100 elderly living in nursing facilities and 100 in homes. Older people's quality of Life Questionnaire (OPQOL-35) was utilized to assess their QOL. In the nursing facility dwelling, 17% elderly reported good QOL with highest standardized score in "home and neighbourhood" and lowest in "health" domain. Of the home dwelling elderly, 74% reported good QOL with highest standardized score in "psychological and emotional wellbeing" and lowest in "health" domain.

Pheochromocytoma - An incidental finding in a child with acute appendicitis.

Pheochromocytoma, a rare tumour, arises mainly in the adrenal gland. It consists of chromaffin cells or sympathetic para-ganglia if extra-adrenal. It is an occurrence of rare nature with an incidence of two to eight cases per million annually. Incidence of paediatric pheochromocytoma is estimated at 0.11 benign and 0.02 malignant pheochromocytomas per million children. Children with it present with sustained hypertension in contrast to the adult triad of tachycardia, headache, and diaphoresis. We report a case in which the patient initially presented with right iliac fossa pain indicating appendicitis but later when evaluated and assessed, pheochromocytoma was diagnosed as well. The incidental nature of the finding, keeping in mind the rare occurrence makes the outcome interesting and intriguing at the same time.

Transcranial Magnetic Stimulation as a Therapeutic Option for Neurologic and Psychiatric Illnesses.

In recent years, transcranial magnetic stimulation has become an area of interest in the field of neurosciences due to its ability to non-invasively induce sufficient electric current to depolarize superficial axons and networks in the cortex and can be used to explore brain functioning. Evidence shows that transcranial magnetic stimulation could be used as a diagnostic and therapeutic tool for various neurological and psychiatric illnesses. The aim of this review is to introduce the basics of this technology to the readers and to bring together an overview of some of its clinical applications investigated thus far.

Spontaneous Left Anterior Descending Artery Dissection in a Middle-Aged Woman with Vitamin B12 Deficiency Treated with Coronary Artery Bypass Grafting.

Spontaneous coronary artery dissection (SCAD) is one of the rarest causes of acute coronary syndromes, which include myocardial infarction (MI), stable and unstable angina, cardiogenic shock, and sudden death. The course of the disease, its etiology, prevalence, prognosis, and treatment remain ill-defined. Adding to the complexity is the fact that patients may lack typical risk factors for coronary heart disease. Herein, we report a case of a 42-year-old woman with vitamin B12 deficiency, who presented with chest pain; electrocardiography (ECG) findings were consistent with the acute anterior wall MI. Cardiac catheterization was done, which showed a very large left anterior descending (LAD) artery dissection.

Cerebral air embolism from a Central Venous Catheter: A timely reminder of the importance of rapid diagnosis.

Cerebral air embolism (CAE) is a rare, avoidable and potentially fatal iatrogenic complication. Here, we report a case of CAE associated with a central venous catheter in the internal jugular vein that resulted in neurological deficits and generalised epileptic seizures. A 64-year-old man admitted for fasciotomy for compartment syndrome developed CAE with left-sided neurological deficits. The suspected origin was retrograde air flow from the right internal jugular venous catheter. The air spontaneously resorbed without the need for specific therapy, and he made a good recovery. CAE is an infrequent iatrogenic complication that requires prompt diagnosis to avoid significant morbidity and mortality. This case serves as a timely reminder that adverse outcome such as stroke, seizures or death can be avoided by a high index of suspicion and prompt diagnosis. Hyperbaric oxygen is the prime therapeutic measure, but high-quality evidence on its clinical value is lacking.

Takayasu Arteritis: A Diagnosis Made Using a Multidisciplinary Approach.

Takayasu arteritis is an idiopathic chronic vasculitis that involves large blood vessels, including the aorta and its main branches. This disease presents typically as ischemia or aneurysms that could be prevented by timely diagnosis and vigilant management. We present here the case of a 19-year-old male who presented with a history of visual disturbance, chest pain, dizziness, and a feeble pulse.

Post-tuberculosis Aspergilloma in Undiagnosed Tetralogy of Fallot.

Tetralogy of Fallot (TOF) is the most common congenital heart disease (CHD) with an incidence of four in every 1000 live births in Pakistan. Classically, these children present with central cyanosis in early life; however, milder defects may remain asymptomatic for months or even years. We report a malnourished and anemic teenage male, who was admitted with shortness of breath, hemoptysis, fever, palpitations, and weight loss. On examination, vitals were stable, except for oxygen saturation, which was 84% on pulse-oximeter. Bilateral basal coarse crepitations were present on respiratory examination with a markedly reduced air entry in the right upper zone. A 2-3/6 systolic ejection murmur was appreciated on cardiac examination. The chest X-ray was consistent with a collapsed right upper lobe with fibrosis. Echocardiography was consistent with findings of TOF. Based on sputum for acid-fast bacilli (AFB smear) and GeneXpert (Cepheid Inc., Sunnyvale, California, US) Mycobacterium tuberculosis/resistance to rifampin (MTB/RIF), the patient was diagnosed with multi-drug resistant pulmonary tuberculosis (MDR-PTB). However, when the patient didn't improve with anti-tuberculous therapy, a computed tomography (CT) scan chest was done, which raised a suspicion of aspergilloma. The culture and cytology of bronchoalveolar lavage (BAL) were done, which confirmed pulmonary aspergilloma. Undiagnosed congenital heart diseases are rare in adults. Pulmonary TB is rarely reported in right-to-left shunts; however, clinicians should maintain a suspicion of this correlation.