Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report

@#We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and dumb-bell shaped long bones. The novel variant caused a severe recessive form of metatropic dysplasia.

Erosive Potential of Medicated Syrups on Primary Teeth: An In vitro Comparative Study.

Aims: This in vitro study was designed to investigate the exogenous erosive potential of most commonly used pediatric syrup medicaments on primary teeth. Place and Duration of Study: Department of Pediatric Dentistry, Vishnu Dental College, Bhimavaram, India, 2012 to 2013. Methodology: The erosive potential of 17 syrups was assessed by measuring their inherent pH, titratable acidity, viscosity and ability to erode enamel. The inherent pH and titratable acidity of syrups were measured using digital pH meter and viscosity was determined using Brookfield viscometer. Enamel surface changes were evaluated using optical 3D profilometer. Results: Api –up (appetizer) showed the least pH and Azee (Azithromycin) exhibited the highest pH. The titratable acidity was greater for Api-up (5.40ml) and least for Tonoferron (0.20ml). Asthalin exhibited highest viscosity and Ondem showed least viscosity. All the test syrups caused some degree of enamel loss, however, Api – up caused the greatest and Azee caused the least degree of enamel loss at three time intervals. Conclusion: The medicated syrups with low inherent pH and high viscosity showed to cause a greater dissolution of enamel. However, certain syrups with low viscosity had shown higher degree of enamel loss due to their inherent acidic pH and those with high viscosity Showed lesser degree of enamel loss due to their basic pH. Hence, these results proved that inherent pH is the most critical factor for erosion.

Age associated increase in intima media thickness in adults.

Caroid Imaging is the Gold Standard that provides useful information about the structure and function of carotid arteries. It is used to measure carotid intima-media thickness and provides useful information about the cardiovascular status of an individual so that early preventive measures for any future risk can be introduced. High resolution B-mode ultrasound imaging has emerged as one of the methods of choice for determining the anatomic extent of atherosclerosis and its progression and for assessing cardiovascular risks. These measurements correlate well with other pathologic changes. The present study was undertaken to see the relation of the intimal thickening with age using B-mode carotid ultrasound imaging technique. 60 subjects in the age group of 20–85 years were included in the study. As arterial parameters are markedly altered by essential hypertension and other risk factors, subjects showing these risk factors were excluded. A significant association between advancing age and intima-media thickness (P<0.0000001) was found and increase in the luminal diameter of the carotid arteries was observed but it was not statistically significant (P>0.05). Age is an independent risk factor for increased IMT which predicts future coronary events. The intima media thickness (IMT) of the common carotid artery measured by ultrasound imaging has been shown to be reliable and early marker of systemic atherosclerosis. Routine use of this technique in clinical settings could improve our ability to decide on preventive therapies to reduce the risk for development of clinical symptoms.

Benign tumors and tumor-like lesions of the calcaneum: A study of 12 cases.

Benign tumors of the calcaneum are rare. Cystic lesions such as simple bone cysts and aneurysmal bone cysts are commonly seen. Aims and Objectives: To evaluate tumors of the calcaneum, which were seen over a 12-year period. Materials and Methods: We analyzed noninfectious, noninflammatory, benign lesions of the calcaneum seen in the Orthopedic Out Patient Department from 1991 to 2003. Twelve such tumors were encountered. There were 11 males and one female and their ages varied from 18 to 53 years with a median of 31. Data was collected from the histopathology reports, radiographs, and inpatient and outpatient records. One of the coauthors reviewed the histopathologic findings of all the tumors. Results: Twelve benign lesions were seen in 12 patients. In our series, cysts predominated, with three aneurysmal bone cysts and five simple bone cysts. The other benign tumors were: one fibrous dysplasia, one vascular hamartoma, one osteoblastoma, and one chondromyxoid fibroma. The bone cysts were treated by curettage, with or without bone grafting, except for one large aneurysmal bone cyst, which was treated by excision of the calcaneum. The postoperative function in this patient was good, with modified footwear. Conclusion: The calcaneum is an uncommon site for most bone tumors, and in our series, bone cysts were the most common benign lesions. Curettage and bone grafting or the use of bone substitutes can be effectively used in the treatment of symptomatic bone cysts of the calcaneum.

Bilateral anotia with congenital hypothyroidism.

Bilateral anotia or microtia is known to be associated with multiple order malformations. The authors report a young infant who presented with failure to thrive and recurrent respiratory tract infections.The patient had bilaterally absent pinnae; instead small skin tags were present. He also had asymmetric crying facies and clinical evidence of hypothyroidism in the form of hoarse voice, constipation and generalized hypotonia. Thyroid function tests confirmed the diagnosis of hypothyroidism.

Coffin-Lowry syndrome.

The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dysmorphic features and skeletal anomalies. The authors report a one and half year old boy with classical features of this syndrome. Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal deformities.

Candida tropicalis meningitis in a young infant.

Candida tropicalis is a rare species of Candida causing meningitis. The authors report a young infant who developed Candida tropicalis meningitis following a prolonged stay in a neonatal intensive care unit for respiratory distress and intra-cranial hemorrhage. The child was successfully treated with recommended doses of Amphotericin B and 5-flucytosine for eight weeks.

Arthritis in HIV.

A five and half-year-old boy with arthritis involving large joints is reported. The child was found to be seropositive for HIV. Various rheumatological manifestations have been described in adults with HIV infection. To the best of our knowledge, this is the first report of HIV infection presenting as arthritis in pediatric age group in Indian literature.

An outbreak of post-streptococcal reactive arthritis.

We describe an outbreak of an illness with fever, mono-, pauci- or polyarticular arthritis, and high antideoxyribonuclease B (ADNB) titres in 11 patients. Two patients had concomitant non-purulent conjunctivitis and one had endogenous endophthalmitis. There was no clinical or echocardiographic (6 patients) evidence of carditis. Blood culture grew Group A beta haemolytic streptococci in one patient. A simultaneous synovial fluid culture in this patient and similar cultures in four more patients yielded no microorganism. Most patients recovered completely, but one developed rheumatoid factor negative spondyloarthropathy. Monoarticular arthritis in several patients, the absence of carditis, and the presence of high ADNB titres without high anti-streptolysin O titres indicate that this was not acute rheumatic fever but post-streptococcal reactive arthritis (PSRA).

Epithelioid haemangioma (benign haemangioendothelioma of bone)--a case report.

A case of epithelioid Haemangioma of the femur is presented. The patient, a 29 year old woman, was treated by curettage and bone grafting, following which two "recurrent" tumours appeared. These were successfully removed by repeat curettage.

Multicentric giant cell tumour of bone--a report of two cases.

Two cases of metachronous multicentric giant cell tumour of bone are reported. One patient had tumours in the tibia and the femur, the second tumour appearing five years after the first. The other patient developed tumours in the tibia and the radius, the second tumour appearing two years and nine months after the first. The metachronous tumours, in both cases, were clinically and radiologically more aggressive than the initial tumours. Treatment with curettage and bone grafting proved to be ineffective for these tumours and en-bloc excision was required for cure.