Giant cementifying fibroma

A 36 year old female with giant cementifying fibroma is presented. The tumour had replaced one half of the body of the mandible. The management policy and brief review of the disease is discussed.     

Primary Carnitine Deficiency – A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly

Systemic primary carnitine deficiency (CDSP) is a rare autosomal recessive disorder caused by a defect in plasma membrane uptake of carnitine due to SLC22A5 gene mutations. A nine-mo-old boy presented with hypertrophic cardiomyopathy, massive hepatomegaly and jaundice. Metabolic testing revealed very low free carnitine levels. Genetic analysis using Sanger sequencing method revealed compound heterozygous mutations in SLC22A5 gene, c. 1354 G > A (p. Glu452Lys, previously reported) and c.231_234del (novel frame-shift). Oral carnitine supplementation resulted in improved clinical outcome with ejection fraction to 75 % and normalization of liver size and enzymes after 3 mo.     

Lipoma in unusual head and neck region: Case series of 4 patients

Lipomas are fairly common in head and neck but their presentation in areas like parapharyngeal space, submandibular space and lateral cervical region are rarely seen. These are mainly asymptomatic and mostly cause aesthetic concerns. Surgical excision remains the mainstay of treatment and surgical approach depends on the site and extent of the lesion. Radiological investigations like CECT and MRI play a vital role in diagnosis and management of these lesions. Here we describe a case series of 4 patients with lipomas in unusual regions of the head and neck, and their management.     

Development of an enzyme-linked immunosorbent assay for the measurement of plasma growth hormone (GH) levels in channel catfish (Ictalurus punctatus): assessment of environmental salinity and GH secretogogues on plasma GH levels

We report the development of a sensitive, and specific, competitive, antigen-capture enzyme-linked immunosorbent assay for the measurement of channel catfish (Ictalurus punctatus) growth hormone (cfGH). The detection limit of the assay (90% binding) was 2.0ng/ml and the ED(50) value (standard curve range 150-0.59 ng/ml) was 67.3 ng/ml. Recovery of cfGH-spiked plasma samples was determined to be 102%. Dose-response inhibition curves using serially diluted pituitary homogenates and plasma samples consistently showed parallelism with the standard curves using purified cfGH. The GH antibody (rabbit anti-catfish GH) specificity was demonstrated in competitive binding curves employing heterologous hormones and purified channel catfish prolactin (cfPRL). These studies show that there was no significant (0.006%) binding of cfPRL (competitive inhibition of cfGH binding), or heterologous hormones, within the working range of the assay. To physiologically validate the assay, catfish were injected (100 microg/g body weight, 3 injections every 5 days) with either bovine GHRH(1-29)-amide or the synthetic hexapeptide GHRP-2 (KP-102: D-Ala-D-beta-Nal-Ala-Trp-D-Phe-Lys-NH(2)) suspended in corn oil. Following the last injection, half of the animals were sampled for plasma and the remaining transferred from fresh water (FW) to 12 ppt seawater (BW: brackish water). Twenty-four hours after transfer to BW, animals were again sampled for plasma. Plasma GH levels were significantly (p<0.001) elevated in all the BW groups (control, KP-102, and bGHRH), compared with the FW (fresh water) groups. In addition, plasma GH levels were significantly (p<0.001) elevated by treatment with either of the GH secretogogues, KP-102 or bGHRH. Our findings demonstrate that two regulatory mechanisms of GH elevation, one which is seen in euryhaline teleosts (salinity-induced GH levels) and another, which has been recently described in teleosts (GHRP-induced GH levels), are present in the stenohaline channel catfish.     

Multicenter Study of the Molecular Basis of Thalassemia Intermedia in Different Ethnic Populations

We studied 325 thalassemia intermedia patients from Iran, India, Pakistan, Thailand, Mauritius and Cyprus to examine factors which influence the phenotype. The β-thalassemia (thal) mutations were determined for 219 β-thal/β-thal and 106 β-thal/Hb E [β26(B8)Glu→Lys, GAG→AAG] thalassemia intermedia patients. Thirty-one different mutations were identified, and their combination gave rise to more than 44 different genotypes, of which 14 (31.8%) had the β⁰/β⁰, 21 (47.7%) the β⁰/β⁺ and nine (20.5%) the β⁺/β⁺ types. Thus, the β⁺-thal mutations were present in 68.2% of patients.

α-Thalassemia mutations were present in frequencies higher than in the general population of all ethnic groups studied, as 45% of the patients carried α-thal mutations. Correlation of α-thal mutations with β-globin mutations showed that the α-thal mutations were mainly co-inherited with the β⁺-thal mutations.

The XmnI ^Gγ polymorphic site at ?158 (C→T) was positive (T) in nine (8.8%) of 102 patients of the β⁺/β⁺ genotype, and the percentage of both XmnI ^Gγ polymorphism [+/?] (T/C) and [+/+] (T/T) genotypes increased to 42.9 and 87.3, respectively, in the β⁰/β⁺ and β⁰/β⁰ patients. This polymorphism was found in the majority of β⁺-thal/Hb E compound heterozygote patients (88.6%), and β⁰-thal/Hb E patients (84.8%), suggesting that it could be linked to the Hb E chromosome. Therefore, the XmnI ^Gγ polymorphism at ?158 (C→T) was associated with β⁰-thal mutations as well as the Hb E chromosome.

The present study demonstrates that in cases of thalassemia intermedia with β⁺ mutations, the common ameliorating factor is the presence of α-thal mutations, while in cases with β⁰ mutations, the common ameliorating factor is the presence of the XmnI ^Gγ polymorphism at ?158 (C→T).