Detection of enteric viruses in pancreas and spleen of broilers with runting-stunting syndrome (RSS) / Detecção de vírus entéricos em pâncreas e baço de frangos com a síndrome de nanismo e raquitismo (RSS)

Enteric disease is a multifactorial problem in chickens, which causes gastrointestinal alterations, elevated feed conversions and impairment. In the last years, several enteric viruses were implicated in enteric disease; case reports have shown their presence alone or in concomitant infections during outbreaks and have suggested that they might be determining factors in the aetiology of enteric disease. This study shows high detection rates of enteric viruses in the pancreas and spleen in samples from an outbreak of enteritis and malabsorption in 16 chicken flocks (n=80 broilers). Avian nephritis virus (ANV) was the most ubiquitous virus, present in 75% of the flocks followed by avian rotavirus group A (ART-A) with 68.75%, and by chicken astrovirus (CAstV) and chicken parvovirus (ChPV) in 43.75% of samples. Viruses were present in the pancreas of positive flocks at extremely high rates: 100% for ART-A, 91.7% for ANV, 100% for CAstV and 57.14% for ChPV. By contrast, only 16.7% and 57.14% of intestine samples were positive for ANV and CAstV, respectively. Avian reovirus (AReo) and avian adenovirus group 1 (FAdV-1) were not detected. These results suggest that high viral detection rates in pancreas samples may be a result of viremia during enteric disease, with subsequent damage of the exocrine pancreas, leading to runting-stunting syndrome (RSS).(AU)

A doença entérica é um problema multifatorial em galinhas que causa alterações gastrointestinais, conversão alimentar elevada e deficiência de crescimento. Nos últimos anos, os vírus entéricos foram associados à doença entérica; casos reportados mostraram a infecção de um único vírus e também infecções concomitantes durante os surtos sugerindo a presença de múltiplos fatores etiológicos nas doenças entéricas. Este estudo mostra uma alta taxa de detecção dos vírus entéricos em amostras de pâncreas e baço de um surto de enterite e má-absorção em 16 lotes de frangos (n=80 frangos). O vírus de nefrite aviária (ANV) foi o vírus mais detectado, estando presente em 75% dos lotes seguido pelo rotavírus aviário grupo A (ART-A) em 68,75% dos casos, e pelo astrovirus (CAstV) e parvovírus aviários (ChPV), ambos em 43,75% das amostras. Os vírus estavam presentes no pâncreas dos lotes positivos em percentuais elevados: 100% para ART-A e CAstV; 91,7% para ANV, e em 57,14% para ChPV. Em contraste, somente 16,7% e 57,14%, em amostras de intestino, foram positivos para ANV e CAstV, respectivamente. Reovírus aviário (AReo) e o adenovírus do grupo 1 (FAdV-1) não foram detectados. Estes resultados sugerem que os elevados percentuais de vírus detectados em amostras de pâncreas podem estar associados à viremia durante a doença entérica, com subsequente lesão no pâncreas exócrino das aves levando ao desenvolvimento da síndrome de nanismo e raquitismo.(AU)

Diagnóstico diferencial del raquitismo hipocalcémico. caso clínico / Differential diagnosis in hypocalcemic rickets: a clinical case

Introducción: La hipocalcemia es un hallazgo infrecuente en los pacientes atendidos en los servicios de urgencia pediátricos. El raquitismo se puede presentar como una hipocalcemia crónica la mayoría de las veces asintomática, sin embargo, algunos pacientes presentan tetanias hipocalcémica. Objetivo: Presentar el caso clínico de una niña con raquitismo hipocalcémico, cuyo diagnóstico fue tardío. Caso clínico: Prescolar de 2 años 5 meses con alteración en la marcha, mal incremento ponderal, espasmos musculares y signos de raquitismo activo. Los exámenes revelaron hipocalcemia severa, normofosfemia, fosfatasa alcalina y PTH elevada y niveles normales de 25 hidroxivitamina D. Se manejó con calcio y calcitriol, y se diagnosticó raquitismo vitamina D dependiente tipo I. Conclusión: Los síntomas y signos clásicos de raquitismo, así como la hipocalcemia, deben hacernos plantear hoy en día el diagnóstico de raquitismo. Un mejor conocimiento de esta patología permitirá evitar el retraso en el diagnóstico y un tratamiento más oportuno.

Introduction: Hypocalcemia is rare in patients attending pediatric emergency services. Rickets can present as a chronic hypocalcemia often asymptomatic, poor growth rate, psychomotor delay and bone abnormalities, but some patients may present tetanic seizures. Although its incidence has decreased, a resurgence of rickets has been described. Objective: To present a case of a child with hypocalcemic rickets, whose diagnosis was delayed. Case report: Preschool of 2,4 years old with gait disturbance, poor growth rate, muscle spams and signs of active rickets. Laboratory results showed hypocalcemia, normophosphemia, alkaline phosphatase, high PTH and normal 25-hydroxyvitamin D levels. She received treatment with calcium and calcitriol and had a good response; Vitamin D dependent rickets type I was diagnosed. Conclusion: Classics signs and symptoms of rickets, as hypocalcemic manifestations, should lead us today to diagnose rickets. Better knowledge of this disease will avoid retarded diagnosis and give a suitable treatment.

Serological evidence of rickettsial infections in Delhi.

Background & objectives: Rickettsial infections remain under-diagnosed due to lack of diagnostic facilities in developing world. Here we present our experience at National Centre for Disease Control, Delhi, about a serosurvey done in Delhi for rickettsial disease with easy to perform low cost, low expertise Weil Felix test. Methods: On the basis of cut-off titre obtained in healthy population, Weil Felix test results were interpreted along with clinical data. Entomological investigation was also carried out in select areas of Delhi. Rodents were trapped from houses and gardens and vector mites were collected. Results: When serum samples were collected during initial 5 yr period from patients with fever of unknown origin, seropositivity was 8.2 per cent whereas when rickettsial infection was kept as one of the differential diagnosis by clinicians seropositivity increased to 33.3 per cent. Rickettsial infections detected were scrub typhus (48.2%) followed by spotted fever group (27.5%) and typhus group (6.8%) during 2005-2009. In preliminary entomological survey vector mite Leptotombidium deliense was found on rodents. Interpretation & conclusions: Our findings showed that results of Weil Felix test should not be disregarded, rather clinically compatible cases should be treated to save lives.

Rickets in children below 2 years

Although breast-feeding is highly appraised and widely practiced in Iraq, human milk supplies all necessary nutrients except a few including vitamin D. Despite abundance of sunshine, vitamin D deficiency rickets is not rare in Iraq. We carried out this study with an objective to determine presence, presentation and predisposing factors of rickets in pediatric patients attending Al Kadymia Teaching HospitAl Baghdad. This study was conducted in Department of pediatrics, AL Kahdymia Teaching Hospital over one year period from first of October 2008 to first of October 2009. Children from newborns to twenty fourth months of age presenting with signs and symptoms of rickets were included and information regarding signs, symptoms predisposing factors [crowded housing, isolated housing with deficient sun exposure, abundant sun but lack of awareness, malnutrition and antenatal factors] and investigations was recorded on a proforma. Diagnosis was based on clinical signs, radiological changes on x-ray of wrist joint and biochemical disturbances in serum levels of alkaline phosphatase, calcium and inorganic phosphorus. Sixty children with rickets reported during the study period. Overall, 40 infants [66.6%] were exclusively on breast feeding. The main clinical presentation was in the form of recurrent lower respiratory tract infection 30 infants [50%], recurrent diarrhea and delayed milestones 20 [33.3%] and seizure 6 patients [10%]. Skeletal changes on clinical examination were present in 30 [50%]. Radiological signs of rickets were present in 50 [83.3%]. Symptoms and signs reverted to normal in all cases after vitamin D supplementation. Nutritional rickets is still prevalent in Iraq, presenting with variable signs and symptoms, predisposing the childhood population to different illnesses and skeletal deformities. In the presence of abundant sunshine, lack of awareness of exposure to sun, may be the important predisposing factors for development of nutritional rickets

Hypophosphataemic rickets/osteomalacia: A descriptive analysis.

Background & objectives: Hypophosphataemic rickets/osteomalacia (HRO) is an uncommon metabolic bone disorder which affects all ages and either sex. It is characterized by low concentration of serum phosphate levels leading to impairment of mineralization of bone matrix with variable aetiology. We present clinical profile and treatment outcome of 17 patients of HRO. Methods: Seventeen consecutive patients (8 were < 18 yr of age, with median age of presentation being 27.5 yr) of HRO who came to the department of Endocrinology in a tertiary care hospital in north India from January 2000 to December 2006 were included in the present study. Their aetiology, clinical features, biochemical parameters, radiographic features, treatment and outcome were analyzed. Results: HRO was commoner in females (70.5%) with positive family history observed in 6 (35.3%) patients. Common presenting features were short stature (58.8%), backache (58.8%), bony deformities (58.8%), joint pain (52.9%), fractures (29.4%) and dental abnormalities (23.5%). Radiological abnormalities noted were generalized bony deformities (58.8%), fractures (29.4%), and pseudo fractures (17.6%). Mesenchymal tumours were localized in the pelvis in one patient and in the right jaw in another. The patients were treated with calcium (elemental calcium 1 g/d) and oral phosphate supplements (dose 30 – 50mg/kg/day in divided doses) along with active vitamin D supplements (dose 1- 3 μg/day) and followed up for a mean of 2 yr. Two patients also received growth hormone (GH) therapy in the dose of 2U/day for 6 and 18 months respectively. Symptomatic well being was reported by all the patients and improvement was noted in the levels of phosphate (P<0.005) and alkaline phosphatase (P<0.05) after treatment. Interpretation & Conclusions: A diagnosis of HRO should be considered in all patients presenting with short stature, deformities or musculoskeletal pains along with low serum phosphate with normal iPTH and 25 – hydroxy vitamin D.

Raquitismo: caso clínico pesquisado en atención primaria / Rickets: clinical case encountered in primary care

Rickets with deficiency etiology is a pathology which is currently infrequent in Chile; it is usually associated with hereditary causes or as a secondary consequence of other pathologies. It is produced by insufficient mineralization of the organic matrix of the skeleton or bones, and affects the epiphyseal growth plate. We report a clinical case of a child aged 15 months from La Serena with a history of osteomalacia in the paternal family; in a well baby examination genu varum was detected along with a metaphyseal thickening of the wrists and costal rosary. A laboratory and radiological study was initiated because of suspected rickets; the patient was referred to the Roberto del Rio Hospital in Santiago for a detailed endocrinological and genetic study.

El raquitismo de etiología carencial es una patología actualmente poco frecuente en nuestro país, cobrando mayor importancia en su incidencia las causas hereditarias y las secundarias a otras patologías. Es producido por mineralización insuficiente de la matriz orgánica del esqueleto u osteoide, que afecta la placa de crecimiento epifisiaria. Se presenta un caso clínico de una lactante de 1 año 3 meses, con antecedentes familiares por línea paterna de osteomalacia, residente en La Serena, en la que en su control de niño sano, se detecta genu varum, leve ensanchamiento metatisiario de muñecas y rosario costal. Se inicia estudio de laboratorio y radiológico por sospecha de raquitismo, obteniéndose resultados sugerentes de ésta enfermedad, derivándose la paciente al Hospital Roberto del Río en Santiago de Chile para completar estudio endocrinológico y genético.

Rickets: a cause of delayed walking in toddlers.

OBJECTIVE: Children with complaints of not able to walk were investigated for rickets by appropriate history, clinical examination, serum biochemistry and radiology. METHODS: Children more than 1 yr were included. Each child was evaluated keeping in mind the possible causes of delayed walking. Also each child was thoroughly examined and diagnosed by combination of clinical, radiological, biochemical findings and response to treatment. RESULTS: Out of forty-two non-walkers during the study period, 25 patients turned out to be affected by nutritional rickets (60%). On follow-up at 3 weeks of treatment, all 25 patients (100%) showed radiological and biochemical response. Five patients were lost to follow-up after 3 weeks of treatment. Seventeen patients started walking within 3 months of treatment. Two patients did not start walking even after complete biochemical and radiological resolution. Radiological resolution, with limiting factor being the healing of lower end of ulna, averaged 5 months. CONCLUSION: The study reveals that majority of ricketic non-walkers start walking within 2 to 5 months of appropriate treatment.

Bulging anterior fontanelle: an unusual presenting sign of nutritional rickets

To report the first case series of infants with nutritional rickets who presented with bulging anterior fontanelle infants who were admitted to Alrass General Hospital, Qassim, Saudi Arabia, between October 2004 and October 2007, with bulging anterior fontanelle and later found to have nutritional rickets were reviewed. Diagnosis of rickets was based on typical biochemical and radiological findings with or without clinical signs of rickets and with a good response to treatment with vitamin D with or without calcium. Nine cases of nutritional rickets who presented with bulging anterior fontanelle are reported. All were below 12 months of age and the majorities are boys. All patients are exclusively breast-fed. Five cases had hypocalcaemia and three of them presented with hypocalcaemic seizures. Five cases showed no clinical signs of rickets. Clinical, biochemical and radiological signs of rickets as well as the status of the anterior fontanelle reverted to normal within six weeks after treatment with vitamin D in all except one patient who took four months to respond. Nutritional rickets remains a problem in Saudi Arabia. A bulging anterior fontanelle is an important, but under-recognized presenting feature of nutritional rickets. Recognition of this association will alley anxiety when confronted with a case of rickets with a bulging anterior fontanelle

Rickets in exclusively breast fed babies.

Articles appear periodically in Indian and western literature, about occurrence of vitamin D deficiency in exclusively breast fed babies. Some countries have formulated guidelines for prevention of vitamin D deficiency in such babies. In this study, twenty cases of nutritional rickets were diagnosed in exclusively breast fed babies between December 2003 and December 2006. None of them received vitamin D supplementation. Through this study, we hope to initiate further research and debate among the policymakers on whether or not vitamin supplementation should be given to all exclusively breast fed babies and lead to a formulation of clear cut guidelines in the Indian context.

Vitamin D deficiency in exclusively breast-fed infants.

Exclusive breast-feeding is recommended up to 6 months of age with all its beneficial effects on child survival. Several studies have concluded that adequate intake of vitamin D cannot be met with human milk as the sole source of vitamin D. As breast-feeding rates increase, the incidence of vitamin D deficiency rickets is also expected to rise. One of the potential sources of vitamin D synthesis is in the skin from the ultraviolet rays of sunlight. Risk factors for developing vitamin D deficiency and rickets include low maternal levels of vitamin D, indoor confinement during the day, living at higher altitudes, living in urban areas with tall buildings, air pollution, darker skin pigmentation, use of sunscreen and covering much or all of the body when outside. In a study of 50 cases of hypocalcaemia reported from an urban tertiary care children's hospital in Chennai, 13 exclusively breast-fed infants presented with hypocalcaemia due to vitamin D deficiency and most of them with seizures. None of them had received vitamin D supplementation and all their mothers had biochemical evidence for vitamin D deficiency. This review discusses the rising incidence of vitamin D deficiency in infancy and the need to consider and implement methods to prevent the same by supplementation and increased exposure to sunlight without the hazards of ultraviolet rays on the skin. Further research to define the magnitude of vitamin D deficiency in exclusively breast-fed infants as a public health and paediatric problem and to recommend programmes to prevent the same are of utmost importance.

Congenital rickets presenting with hypocalcaemic seizures

At Ataturk University Hospital, eight infants who presented with hypocalcaemic seizures were subsequently found to have rickets. Their mothers had osteomalacia. Neither mothers nor infants received vitamin D supplementation. Maternal vitamin D deficiency and non-supplementation in the infants were causes of rickets in these patients. It is recommended that neonatal hypocalcaemia may be due to maternal vitamin D deficiency and all unsupplemented vitamin D infants presenting with seizures should be investigated for rickets.

Asymptomatic rickets in adolescent girls.

OBJECTIVE: Inadequate sunlight exposure and calcium intake during rapid growth at puberty lead to hypocalcemia, hypovitaminosis D and eventually to overt rickets. To determine serum biochemical findings of rickets in healthy 11-15 yr old girls, the effect of sunlight exposure and oral vitamin D supplementation on serum 25- hydroxy vitamin D and calcium administration in girls with abnormal findings during December 2002 through March 2003 in Tehran, Iran. METHODS: Healthy middle school girls were selected for estimation of vitamin D, calcium and phosphorus intake by a three-day food recall. And measurement of serum calcium, phosphorus, parathyroid hormone, alkaline-phosphatase and 25- hydroxyvitamin D concentration. The girls with abnormal findings divided in two groups. Hypovitaminosis D girls subdivided into two groups, supplementary sunlight exposure and vitamin- D administrated for them and calcium administration for the second group for 20 days. RESULTS: Of 414 girls, the mean daily vitamin D acquirement and calcium intake were 119 +/- 52 IU and 360 +/- 350 mg among all girls respectively. Mean serum 25-hydroxyvitamin D with two or more abnormal biochemical findings in 15 (3.6%) girls (group I) were 7.8 ng/ml and alkaline phosphatse with normal or low calcium in 29 (7%) girls (group II) was 1187 IU/L. Mean serum calcium was 8.2 mg % in 8 of 29 girls. Serum 25- hydroxyvitamin D before and after sunlight exposure was 7.1 +/- 1.9 ng/ml and 13.9 +/- 2.4 ng/ml and vitamin D administration was 7.4 +/- 1.8 ng/ml (group Ia) and 27.9 +/- 4.2 ng/ml (group Ib) respectively. Serum alkaline phosphatase before and after calcium administration were 1187 IU/L and 666 IU/L respectively. CONCLUSION: We conclude that low daily calcium intake and vitamin D acquirement are two important problems in Iranian girls during rapid growth at puberty; therefore, for prevention of overt rickets calcium and vitamin D Supplementation appear to be necessary.

Type 1 renal tubular acidosis with sensorineural deafness.

We report a case of Type 1 Renal Tubular Acidosis (RTA) in association with sensorineural deafness. Inherited Type 1 RTA is usually autosomal dominant, though there is a rarer recessive form associated with nerve deafness. Simple alkali replacement can correct the systemic metabolic defect, but does not appear to ameliorate hearing loss.

Rickets: a nutritional disease with variable clinical presentations

We carried out this study to delineate the clinical findings that can direct physicians towards infants and children who are at risk for rickets and to describe how to evaluate a child for vitamin D deficiency rickets in pediatric population attending Ahmer Maher Teaching Hospital. This study was conducted in Department of Pediatric , over a twelve months period from April 2003 to March 2004. Infants and children up to three years of age presenting with signs and symptoms of rickets were included and information regarding signs, symptoms, predisposing factors [crowded housing, isolated housing with deficient sun exposure, abundant sun but lack of awareness, malnutrition and antenatal factors] and investigations were carried out. Diagnosis was based on clinical signs, radiological changes on x-ray wrist joint and biochemical disturbance in serum levels of alkaline phosphatase, calcium, and inorganic phosphorus

Results: Forty six patients with rickets reported during the study period. The main clinical presentation was in the form of delayed motor milestones in 10[31.7%] children, recurrent lower respiratory infections in 16[34.8]children, recurrent diarrhea in 7[15.2%] children, and seizures in 3[6.5%] children. Skeletal changes on clinical examination were present in 20[43.5%] children. Radiological signs of rickets were present in 41[89.1%] patients. Symptoms and signs reverted to normal in all patients after vitamin D supplementation and adequate sun light exposure. The apparent risk factors were lack of awareness, malnourishment and antenatal factors

Conclusion: Rickets is a common nutritional disease presenting with variable signs and symptoms . In the presence of abundant sunshine lack of awareness of exposure to sun, malnutrition and antenatal factors may be the important predisposing factors for development of nutritional rickets

Polimorfismo del gen del receptor y epidemiología de la vitamina D / Polymorphisms of the gen receptor and epidemiology of vitamin D

En este artículo revisamos los aspectos históricos y los diferentes autores que contribuyeron al conocimiento del polimorfismo del gen de la vitamina D. También se hace un análisis completo de los aspectos epidemiológicos del raquitismo, la definición y las primeras descripciones del mismo, el concepto de enfermedad nutricional, la importancia e historia del uso del hígado de bacalao, y el inicio del conocimiento de las patologías relacionada con la vitamina D