Comparison between true and partial hemifacial hypertrophy

Hemifacial hypertrophy (HFH) is rare and characterized by unilateral enlargement of the head and teeth. Hemifacial hypertrophy is classified as true HFH (THFH) with unilateral enlargement of the viscerocranium, and partial HFH (PHFH) in which not all structures are enlarged. We present a case of THFH and compare and contrast it with a case of PHFH. Hemifacial hypertrophy may cover a wide spectrum of defects or may involve only muscle or bone. Myohyperplasia, reported previously as a separate syndrome, may actually represent a forme fruste of PHFH or THFH. The PHFH patient lead a healthy, normal life without significant psychosocial problems and was reluctant to accept his deformity. Contrastingly, the THFH patient had significant social stigma and compromised health together with major aesthetic morbidity. Treatment planning in THFH is arduous and involves multiple modalities. Therefore, it is imperative to differentiate THFH and PHFH for better understanding and management of the condition.     

Rhinocerebral zygomycosis: an increasingly frequent challenge: update and favorable outcomes in two cases

Zygomycosis or mucormycosis is an increasingly frequent life-threatening infection caused by opportunistic fungal organisms of the class Zygomycetes. The pathognomonic feature is the presence of invasive aseptate mycelia that are larger than other filamentous fungi with the hyphae exhibiting right angle and haphazard branching. Usually classified as rhinocerebral, disseminated, and cutaneous types, this classification serves as important predictor of pathogenesis and outcome. These occur mostly in immunosuppressed patients including individuals with diabetes (43% exhibit the rhino-cerebral form) and patients with organ transplants and hematologic malignancies. Without early aggressive treatment, the disease follows a dismal and fatal course. The prognosis has not shown any appreciable change in the past 40 years with a stagnant mortality rate of 44%. We present 2 cases of rhinocerebral zygomycosis (RCZ), in a 58-year-old male and a 63-year-old female; both were poorly controlled diabetic patients with maxillary lesions suggestive of osteomyelitis. The patients were leading a near normal life with minimal discomfort or signs and symptoms of underlying mycosis. Most of the health care professionals treating these patients often overlooked the disease or recommended inadequate therapy. Despite long delays and inadequate initial therapy these patients survived with little outward morbidity. The prognosis for this condition may therefore be considered less dire than previously thought.     

Incidental detection of calcified left coronary artery pseudoaneurysm years after surgery for TOF

We present images from computed tomography angiography in a 40-year-old female with a calcified pseudo-aneurysm in her left coronary artery, who had previously undergone repair of tetralogy of Fallot.     

Targeted sequencing using a 47 gene multiple myeloma mutation panel (M3P) in ‐17p high risk disease

We constructed a multiple myeloma (MM)‐specific gene panel for targeted sequencing and investigated 72 untreated high‐risk (del17p) MM patients. Mutations were identified in 78% of the patients. While the majority of studied genes were mutated at similar frequency to published literature, the prevalence of TP53 mutation was increased (28%) and no mutations were found in FAM46C. This study provides a comprehensive insight into the mutational landscape of del17p high‐risk MM. Additionally, our work demonstrates the practical use of a customized sequencing panel, as an easy, cheap and fast approach to characterize the mutational profile of MM.     

Mapping antigenic diversity and strain specificity of mumps virus: a bioinformatics approach

Mumps is an acute infectious disease caused by mumps virus, a member of the family Paramyxoviridae. With the implementation of vaccination programs, mumps infection is under control. However, due to resurgence of mumps epidemics, there is a renewed interest in understanding the antigenic diversity of mumps virus. Hemagglutinin-neuraminidase (HN) is the major surface antigen and is known to elicit neutralizing antibodies. Mutational analysis of HN of wild-type and vaccine strains revealed that the hypervariable positions are distributed over the entire length with no detectable pattern. In the absence of experimentally derived 3D structure data, the structure of HN protein of mumps virus was predicted using homology modeling. Mutations mapped on the predicted structures were found to cluster on one of the surfaces. A predicted conformational epitope encompasses experimentally characterized epitopes suggesting that it is a major site for neutralization. These analyses provide rationale for strain specificity, antigenic diversity and varying efficacy of mumps vaccines.     

Associations between betel nut (Areca catechu) and symptoms of schizophrenia among patients in Nepal: A longitudinal study

Betel nut is one of the mostly widely used substances in the world, particularly across Asia. Arecoline, a partial muscarinic agonist, has been hypothesized to have beneficial effects on both positive and negative symptoms of schizophrenia. This study aims to further explore associations between betel use and symptoms of schizophrenia in a 4-month longitudinal study in Nepal. Sixty Nepali patients with schizophrenia were recruited from regional outpatient clinics. The Positive and Negative Syndrome Scale (PANSS) and the Social Adaptation Self-Evaluation Scale were used to assess symptoms and social functioning in regular betel users and non-users. No significant group differences or dose–response relationships were noted on either initial or follow-up assessments. Stratifying by sex also failed to reveal an association between symptoms and betel use, which stands in contrast with previously reported data from Micronesia. There were no differences seen in social functioning other than a significantly higher proportion of betel users holding jobs. It was also noted that significantly fewer betel chewers were taking anti-cholinergic medication, which may tentatively indicate a potentially therapeutic role in the future for partial muscarinic agonists in the treatment of medication-induced movement disorders.     

Partial anomalous pulmonary venous connection in a patient with tetralogy of Fallot: Infrequent,but not inconsequential

We hereby describe a rare case of partial anomalous pulmonary venous connection (PAPVC) in a patient with tetralogy of Fallot (TOF). It is imperative to identify PAPVC preoperatively in patients with TOF as it can have significant hemodynamic outcomes. This case highlights the importance of computed tomography angiography in demonstrating the same.