Assessment of awareness of common rheumatological diseases amongst final year medical undergraduate students: single centre questionnaire-based survey

Background: Assessment of awareness of common rheumatological diseases amongst final year medical undergraduate students – single centre questionnaire-based survey.Methods: A cross-sectional survey of final year students was conducted during a national undergraduate medical summit. Participants were asked to fill out a 10-question survey (online link/in print). Results were summarized using descriptive statistics.Results: A total 162 medical students completed the survey. Only 18 of 162 respondents were able to score more than 50% in all domains with only one respondent getting all the questions correct. Partial awareness about the major rheumatological diseases in adults was seen with 122 (75%), 110 (68%) and 105 (65%) students having more than 50% correct in the domains of lupus, psoriasis and rheumatoid respectively without scoring completely. By contrast even general awareness of pediatric rheumatology was low with only 34 respondents (21%) having more 50% score in this domain.Conclusions: These findings are consistent with the general consensus amongst rheumatologists that medical students are inadequately exposed to rheumatological disorders and evolving treatments. Awareness of paediatric rheumatology is the lowest and needs urgent addressing.

Leishmaniasis mucocut nea con presentacion atipica: setenta anos posprimoinfeccion / Mucocutaneous leishmaniasis with atypical presentation: seventy years after primary infection

Las leishmaniasis son un grupo de enfermedades tropicales causadas por par sitos protozoarios del g‚nero Leishmania. Hayal menos 20 especies de Leishmania, cada una puede causar una enfermedad espec¡fica relacionada a la especie ya la respuesta inmunol gica del hu‚sped. Se presenta el caso de un paciente var¢n de 87 a¤os, con el diagn¢stico de leishmaniasis mucocut nea, setenta a¤os despu‚s de la primoinfecci n, cuya presentaci¢n se inicia en la zona cut nea y compromete la mucosa nasal por extensi¢n. Tiene antecedente de hace 70 a¤os de lesi¢n ulcerativa que se resolvi¢ espont neamente en un viaje a  rea end‚mica de leishmaniasis en Per£, desde entonces nunca viaj¢ fuera de Lima. El paciente fue diagnosticado de leishmaniasis por histopatologia y PCR de las lesiones. Fue tratado con estibogluconato de sodio, 20 mglkgld, intramuscular, cada 12 horas, por 28 d¡as, con per¡odos de descanso de 7 d¡as. Present¢ curaci¢n cl¡nica completa de las lesiones infiltradas y ulcerativas.

Leishmaniasis is a tropical disease witli a wide clinical spectrum caused by protoioan parasites of the genus Leishmania. There are at least 20 species of Leishmania, each may cause a disease specific to the species and the host immunological response. We present the case of a 87 year old male patient, We found he had an ulcerative lesion on his left arm 70 years prior, that spontaneously heal, while he traveled to an endemic area for leishmaniasis in Peru. Since then he had never traveled outside his city. The patient was diagnosed of leishmaniasis by histopathology and PCR from the lesions. He was treated with systemic sodium stibogluconate (20 mg/kg/d) for 28 days with complete clinical healing of the ulcerative lesions.

Acroqueratoelastoidosis, patología infrecuente o diagnóstico por hallazgo con subregistro: reporte de dos casos y revisión de la literatura / Acrokeratoelastoidosis: infrequent pathology or underreported diagnostic finding: report of two cases and review of the literature

La acroqueratoelastoidosis es una genodermatosis de curso crónico que se caracteriza por la presencia de múltiples pápulas pequeñas e hiperqueratosicas, o placas firmes sobre márgenes laterales de manos y pies, así como dorso de palmas y plantas. Describimos dos casos clínicos evaluados en dos instituciones de salud, el primero de un paciente varón de 73 anos que consulta por tina de la mano, con el hallazgo casual de lesiones papulares traslúcidas, algunas umbilicadas, en bordes y dorso de dedos de las manos, sin antecedentes familiares de cuadros similares; el segundo caso el de una paciente de 16 anos que consulta por acné y que al examen general se describe como hallazgo lesiones queratósicas papulares, pequeñas, agrupadas, traslucidas y de color amarillento que se ubicaban en el borde cubital del quinto dedo y pliegue interdigital del primer y segundo dedo en ambas manos. El estudio histopatológico concluyo en acroqueratoelastoidosis. Reportamos estos casos por ser cuadros de poca frecuencia y se realiza una revisión de la literatura.

Acrokeratoelastoidosis is a genodermatosis of chronic condition, characterized by multiple small hyperkeratotic papules or by firm plaques on the sides of the hands and feet, as well as the back of palms and soles. We describe two cases who attended to two healthcare facilities, the first of a 73-year-old male who consulted for ringworm of the hand, with the incidental finding of translucent papular lesions, some with umbilicated center, along the sides and backs of fingers, with no previous family history of such symptoms. The second one of a 16-year-old female patient who consulted for acne but presented, on physical examination, a small group of translucent yellowish papular keratotic lesions on the cubital side of the ulnar finger and interdigital fold of the first and second fingers on both hands. Histopathology study concluded acrokeratoelastoidosis. We report these cases because of their low frequency, and reviewed the literature.

Angioqueratoma Nevoide Circunscrito / Circumscribed Nevoid Angiokeratoma

Los angioqueratomas son un grupo de malformaciones vasculares caracterizadas histológicamente por la presencia de dilatación de capilares superficiales con hiperqueratosis suprayacente, existen cinco tipos clínicamente reconocibles. El angioqueratoma nevoide circunscrito (ANC) es un tipo inusual de angioqueratoma localizado en glúteos o muslos mostrando una distribución unilateral. Presentamos el caso de un angioqueratoma nevoide circunscrito en una adolescente cuyo tratamiento resultó insatisfactorio, siendo pocos los aportes de la literatura en el manejo exitoso de esta patología.

The angiokeratomas are a group of vascular malformations histologically characterized by the presence of dilated surface capillaries with overlying hyperkeratosis, there are five types clinically recognizable. The nevoid circumscriptum angiokeratoma is an unusual type of angiokeratoma located in buttocks or thighs showing a unilateral distribution. We present a nevoid circumscribed angiokeratoma in a teenager, whose treatment was unsatisfactory, with little input from the literature on the successful management of this condition.

Prenatal diagnosis of phenylketonuria.

We report prenatal diagnosis of phenylketonuria by linkage analysis of the markers linked to the phenylalanine hydroxylase (PAH) gene. Three markers comprising STR (TCTAT)n in intron 3, VNTR (30bp long cassette) in the 3' UTR and Xmn1 RFLP were ascertained in the affected child, the parents and the chorionic villi sample. The foetus was confirmed to be heterozygous for the mutant allele. The diagnosis that the foetus was unaffected was confirmed by biochemical tests in the newborn.

Leber's hereditary optic neuropathy with molecular characterization in two Indian families.

PURPOSE: Leber's hereditary optic neuropathy (LHON) presents in early adulthood with painless progressive blindness of one or both eyes. Usually there is a positive family history of similar disease on the maternal side. Definitive diagnosis can be established by finding the change in the mitochondrial gene. No molecular studies have been reported from India. MATERIAL AND METHODS: Clinical, ophthalmologic and molecular studies were carried out in two patients from different families and available first degree relatives. The subjects were tested for the three common mutations seen in LHON by molecular techniques of polymerase chain reaction using mutation specific primers. RESULTS: The mutations G3460A and G11778A in the mitochondrial genes MTND1 and MTND4, known to be causative for LHON, were found in one family each. CONCLUSION: Diagnosis of LHON should be considered in familial cases and in young adults with optic atrophy. Confirmation of diagnosis should be sought by molecular gene analysis. Genetic counselling should be offered to all 'at risk' relatives of a patient harbouring the mutation.