H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures. Exophthalmos, malabsorption, renal anomalies, flexion contractions of interphalangeal joints and hallux valgus, and lytic bone lesions, as well as osteosclerosis, are also seen. If these are lacking, the constellation of additional findings should raise suspicion for H syndrome. As most of the patients reported to date with H syndrome are from traditional, low-income populations, where consanguinity is common, it is highly important to develop a cheap and affordable technique for a mutation analysis. Two siblings presented to us, diagnosed as having insulin-dependent diabetes mellitus (IDDM) since the age of eight years and progressive flexion contracture of the small joints for seven-eight years. On examination, both had short stature. One also had bilateral cervical lymphadenopathy. The female had the Tanner stage of B3P3A2 M0 and the male had the Tanner stage of prepuberty. Laboratory workup, including antinuclear antibodies, rheumatoid factor, erythrocyte sedimentation rate, thyroid profile, and Celiac serology were negative. Genetic studies confirmed the diagnosis of H syndrome.
Marijuana has become one of the most commonly used recreational drug. Much of its use, is based upon its belief that it is relatively "safe" especially when compared to other drugs. This case, among others, highlights the fact that although marijuana has been utilized for many years in many cultures for many medical reasons, it does not come without risk. Specifically, we like to focus on cardiovascular risk associated with marijuana use. Relatively speaking, extensive research has not been done to localize marijuana and the specific mechanisms by which it can cause cardiovascular morbidity and mortality. However, it is also not an undocumented phenomenon. There have been varieties of case reports as well as studies, which have studied the cardiovascular toxicity, which are associated with marijuana use. Such toxicities include that of Acute Myocardial Infarction (AMI), vasospasm, LV thrombus among others. Here we present one such presentation of a patient with coronary vasospasm presenting as NSTEMI soon after heavy marijuana use.
Transradial approach for cardiac catheterization is a viable alternative to transfemoral approach given its ease of access, lessened complication risk, and post procedural comfort for patients. Radial pseudoaneurysm presents as a rare complication in less than 1% of these procedures. The use of external compression banding is an approach that shows promise as a noninvasive attempt towards resolving this complication. However, it has been documented in very few reports. We describe a case of an 82-year-old woman who underwent transradial approach to cardiac catheterization, and developed a radial pseudoaneurysm following the procedure as confirmed by Doppler ultrasonography. We used compressive banding as a technique to attempt to resolve this radial pseudoaneurysm. Following a strict protocol of pneumatic banding, repeat ultrasonography revealed complete resolution of radial pseudoaneurysm. This case highlights a potentially noninvasive technique that could serve as a first-line approach towards resolving this rare phenomenon.
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