Proximal muscle weakness--an unusual presentation of celiac disease

The identification of the etiology of metabolic bone disease that leads to myopathy is important as this type of muscle weakness often responds fully to treatment. We present the case history of an 11-year-old girl with celiac disease who had rickets masquerading as muscle weakness and bone pains.     

Predicting clinical outcome in patients diagnosed with synchronous ovarian and endometrial cancer

PURPOSE: Patients with synchronous ovarian and endometrial cancers may represent cases of a single primary tumor with metastasis (SPM) or dual primary tumors (DP). The diagnosis given will influence the patient's treatment and prognosis. Currently, a diagnosis of SPM or DP is made using histologic criteria, which are frequently unable to make a definitive diagnosis. EXPERIMENTAL DESIGN: In this study, we used genetic profiling to make a genetic diagnosis of SPM or DP in 90 patients with synchronous ovarian/endometrial cancers. We compared genetic diagnoses in these patients with the original histologic diagnoses and evaluated the clinical outcome in this series of patients based on their diagnoses. RESULTS: Combining genetic and histologic approaches, we were able make a diagnosis in 88 of 90 cases, whereas histology alone was able to make a diagnosis in only 64 cases. Patients diagnosed with SPM had a significantly worse survival than patients with DP (P = 0.002). Patients in which both tumors were of endometrioid histology survived longer than patients of other histologic subtypes (P = 0.025), and patients diagnosed with SPM had a worse survival if the mode of spread was from ovary to endometrium rather than from endometrium to ovary (P = 0.019). CONCLUSIONS: Genetic analysis may represent a powerful tool for use in clinical practice for distinguishing between SPM and DP in patients with synchronous ovarian/endometrial cancer and predicting disease outcome. The data also suggest a hitherto uncharacterized level of heterogeneity in these cases, which, if accurately defined, could lead to improved treatment and survival.     

Users' guides to the medical literature: how to use an article about mortality in a humanitarian emergency

The accurate interpretation of mortality surveys in humanitarian crises is useful for both public health responses and security responses. Recent examples suggest that few medical personnel and researchers can accurately interpret the validity of a mortality survey in these settings. Using an example of a mortality survey from the Democratic Republic of Congo (DRC), we demonstrate important methodological considerations that readers should keep in mind when reading a mortality survey to determine the validity of the study and the applicability of the findings to their settings.     

Ingested nail penetrating the neck in an infant

Ingested sharp foreign bodies usually lodge themselves in the pharynx unlike their more common smooth counterparts, which are found in the upper esophagus. These are very rare in infants and pose problems like delayed presentation and occasionally extraluminal migration. A very rare case of through and through penetration of neck by an ingested nail in an infant, which presented 8 months after its ingestion, is reported.     

Psychological consequences of chronic physical illnesses in children and adolescents

Chronic illnesses in children and adolescents have devastating influence on them and their families. The patients have to cope up with illness, medication and it’s influence on their development. Consequently a large number of them have emotional disorders which influence the course and outcome of physical disorder. In recent few years, research has shifted its focus from merely figuring out the prevalence of the emotional disorders to understanding the adjustment to chronic illness under defined theoretical constructs. Apart from temperamental variation, family burden and functioning have been identified as factors operating in determining adjustment. Distress experienced by the family and disturbed family functioning directly influences the emotional outcome in physically disordered children. Comprehensive coordinated care services are required for integration of these patients into the community.     

Respiratory allergy

Allergic rhinitis (AR) and asthma are common respiratory allergic disorders which are increasing globally more in developed countries. Although much has been written about childhood asthma and guidelines published by various international and national fora, not much information is available on AR. This is most common in children, is a significant risk factor for developing asthma, is a common comorbidity with asthma and affects quality of life. This paper highlights the risk factors for developing respiratory allergy asthma and AR, linkages between them and the management issues, particularly in relation to the allergic or allergological aspects as they have important bearing on management of children suffering from respiratory allergy. Specific immunotherapy (SIT) is re-emerging as useful therapy which alone has the potential to modify the natural history of disease and prevent the ‘allergic march’. Timely diagnosis, correct management including timely referrals can ensure good quality life for those suffering from respiratory allergies.     

Common environmental allergens causing respiratory allergy in India

Respiratory allergy affects all age groups but the children are the worst affected by the respiratory allergy. Bioparticles from different biological sources are the main cause of allergy. Pollen grains, fungal spores, insect and other materials of biological origin form the most important allergen load in the air. For the efficient diagnosis of the allergy and its effective treatment it is very important to know about the prevalence, seasonal and annual variations of aeroallergens of the area. India being the climatically diversed country, there is diversity in the flora and fauna of different parts of the country. Atmospheric surveys carried out in different parts of India reveal that,Alanus nitida, Amarantus spinosus, Argemone mexicana Cocos nucifera, Betula utilis, Borasus flabellifer, Caraica papaya, Cedrus deodara, Cassia fistula, Parthenium, Chenopodium album,Dodonaea viscosa, Malotus phillipensis, Plantago ovata, Prosopis juliflora, Ricinus communis, Holoptelea intergifolia are the allergenically important pollens of the country. Among the fungal aeroallergens,Altemaria, Candida aibieans, Aspergillus versicolor, Aspergillus terreus, Aspergillus japonicus, Cladosporium cladosporoides, Fusarium roseum, Ganoderma lucidum,Neurospora sitophila Helminthosporium, Ustilago trtici, Uromyses are important allergens. Dust mitesD. farinae,D.pteronyssinus are also important source of inhalant allergens particularly in the coastal areas of the country. Cockroaches, beetles, weevils, mosquitoes, house flies also contribute towards the aeroallergen load and are allergenically implicated. Avoidance of the indoor and outdoor aeroallergens is recommended for better management of respiratory allergy.     

Minimally invasive parathyroidectomy: the role of radio-guided surgery

OBJECTIVES: Objectives were to review our current experience with radio-guided parathyroid surgery and to compare various techniques of minimally invasive parathyroidectomy. STUDY DESIGN: 1) To review our recent experience of radio-guided gamma probe localization during surgery for primary hyperparathyroidism and 2) to compare the intraoperative findings with the preoperative sestamibi scan. METHODS: Analysis was made of the 10 most recent surgical procedures for primary hyperparathyroidism at a single institution to compare the operative localization with preoperative sestamibi scan and to determine the radioactivity in the tissue removed during surgery, such as parathyroid adenoma, normal parathyroid gland, thyroid tissue, or lymph nodes. RESULTS: The sestamibi scan was able to localize the enlarged parathyroid gland in eight patients. Although gamma probe was helpful in localizing the parathyroid gland, the identification of an enlarged parathyroid gland was directly based on the preoperative findings of sestamibi scan. In the remaining two patients, the intraoperative gamma probe was not helpful. CONCLUSIONS: The major advantage of gamma probe in the series was to evaluate the radioactivity in the tissue that was removed and to determine whether it was an enlarged parathyroid gland, lymph node, thyroid tissue, or fatty tissue. The radio-guided surgery did not add substantially to the surgical procedure in patients in whom the sestamibi scan had localized the enlarged parathyroid gland preoperatively.     

Fibrous dysplasia of Sphenoid bone

Fibrous dysplasia represents a disturbance of normal bone development specifically a defect in osteoblastic differentiation and maturation that originates in the mesenchymal precursor of the bone. In fibrous dysplasia, the lesion expands, which leads to a distortion and weakening of bone. Although the lesion is not encapsulated, it tends to remain enclosed within a shell of cortical bone. This shell can be thinned as a result of the pressure exerted on it. As it slowly progresses, fibrous dysplasia can cause skeletal destruction and deformity.