Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report.

Kenny-Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving hypoparathyroidism. The autosomal dominant form (KCS2), caused by heterozygous pathogenic variants in the FAM111A gene, is distinguished from the autosomal recessive form (KCS1) and Sanjad-Sakati syndrome (SSS), both caused by pathogenic variants in the tubulin folding cofactor E (TBCE) gene, by the absence of microcephaly and intellectual disability. We present a patient with KCS2 caused by a de novo pathogenic variant c.1706G>A (p.Arg569His) in FAM111A gene, presenting intellectual disability and microcephaly, which are considered to be typical signs of SSS. We suggest that KCS1, KCS2, and SSS may not represent mutually exclusive clinical entities, but possibly an overlapping spectrum.

Factores de riesgo de hipocalcemia severa postiroidectomía total / Risk factors for severe hypocalcemia after total thyroidectomy

Antecedentes: la hipocalcemia es la complicación más frecuente luego de una tiroidectomía total y puede manifestarse de manera bioquímica, o con síntomas leves o severos. Objetivos: analizar factores de riesgo asociados al desarrollo de hipocalcemia severa postiroidectomía total. Material y métodos: se incluyeron pacientes en los que se realizó tiroidectomía total primaria, analizando factores de riesgo asociados al desarrollo de hipocalcemia severa (signos y síntomas que requirieron internación y tratamiento con calcio intravenoso o persistencia de signosintomatología luego de 48 horas de haber recibido tratamiento inicial vía oral). Se analizaron variables demográficas, clínico-quirúrgicas e histopatológicas. Resultados: se realizaron un total de 1665 tiroidectomías entre 2007 y 2018 y, de estas, 918 fueron tiroidectomías totales primarias. Un total de 203 (22%) pacientes desarrollaron hipocalcemia. De ellos, 183 (20%) presentaron hipocalcemia leve y 20 (2%) hipocalcemia severa. En el análisis univariado, la edad, la intervención por cirujano especialista en cabeza y cuello, el peso de la glándula tiroides mayor de 30 gramos, la resección paratiroidea y la patología maligna se vieron asociados al desarrollo de hipocalcemia severa. En el análisis multivariado, los últimos tres fueron factores de riesgo asociados a esta complicación, con significancia estadística. Conclusiones: en nuestra serie, los factores de riesgo asociados al desarrollo de hipocalcemia severa postiroidectomía total fueron la resección, advertida o inadvertida de las glándulas paratiroides, el peso de la glándula tiroides mayor de 30 gramos y la patología maligna. Por lo tanto, en estos pacientes debemos prestar especial atención al desarrollo de dicha complicación en el posoperatorio.

Background: Hypocalcemia is the most common complication after a total thyroidectomy. It may occur as biochemical hypocalcemia, or with mild or severe symptoms. Objectives: The aim of this study was to analyze the risk factors associated with the development of severe hypocalcemia after total thyroidectomy. Material and methods: Patients undergoing primary total thyroidectomy were included. The risk factors for the development of severe hypocalcemia (signs and symptoms requiring hospitalization and treatment with intravenous calcium or persistence of signs and symptoms after 48 hours of initial oral treatment) were analyzed. The evaluation included analysis of the demographic, clinical, surgical and histopathological variables. Results: Of 1665 thyroid resections performed between 2007 and 2018, 918 corresponded to primary total thyroidectomies; 203 (22%) of these patients developed hypocalcemia. Mild hypocalcemia occurred in 183 (20%) cases and sever hypocalcemia in 20 (2%) patients, The univariate analysis showed that a procedure performed by head and neck surgeons, thyroid gland weight > 30 g, resection of the parathyroid glands and thyroid cancer were associated with the development of severe hypocalcemia. On multivariate analysis, the last three variables were risk factors significantly associated with this complication. Conclusions: In our series, noticed or inadvertent resection of the parathyroid glands with subsequent reimplantation, high weight of the thyroid gland and malignancy were identified as risk factors for the development of severe hypocalcemia after total thyroidectomy. Therefore, we should pay special attention to the development of such complication in the postoperative period.

Transition diseases in grazing dairy cows are related to serum cholesterol and other analytes.

The objectives of this study were to describe the incidence of postpartum disease and to evaluate the association with serum cholesterol concentrations during the first 3 weeks after calving in grazing dairy cows. The association between non-esterified fatty acids (NEFA), ß-hydroxybutyrate (BHBA), calcium and postpartum diseases was also evaluated. A total of 307 Holstein dairy cows from 6 commercial grazing herds in Osorno, Chile, were monitored from calving until 21 days in milk. Cases of retained placenta, clinical hypocalcemia and clinical mastitis were recorded by the farmer using established definitions. Twice weekly, cows were evaluated for metritis by the same veterinarian based on vaginal discharge and body temperature. Postpartum blood samples were collected weekly and analyzed for serum concentrations of cholesterol, NEFA, BHBA and calcium. Cows were considered as having subclinical ketosis if BHBA >1.2 mmol/L, and subclinical hypocalcemia if calcium <2.0 mmol/L in any of the 3 weekly samples. Overall, 56% of the cows studied developed at least one clinical or subclinical disease after calving. Incidence of individual diseases was 8.8% for retained placenta, 4.2% for clinical hypocalcemia, 11.7% for clinical mastitis, 41.1% for metritis, 19.9% for subclinical hypocalcemia and 16.6% for subclinical ketosis. Lower postpartum cholesterol in cows was associated with developing severe metritis or having more than one clinical disease after calving. For every 0.4 mmol/L decrease in serum cholesterol cows were nearly twice as likely to be diagnosed with multiple clinical diseases after calving. Higher BHBA concentrations and lower calcium concentrations during week 1 were associated with severe cases of metritis. Low serum calcium concentration during week 1 was also associated with developing more than one clinical disorder after calving. In conclusion, the incidence of postpartum diseases can be high even in grazing herds and lower serum cholesterol concentrations were associated with occurrence of clinical postpatum disorders.

Effects of experimental osteoporosis and low calcium intake on postextraction sockets of rats.

This study analysed the initial effects of the combination of oestrogen deficiency with a calcium-deficient diet on alveolar bone repair. Sixty-three 3-month-old female rats were either ovariectomized (OVX, n = 42) or sham-operated (SHAM, n = 21). Among the 42 ovariectomized rats, 21 received standard commercial food (OVX) and 21 received food with low calcium content (ESP). The mandibular first molars were extracted bilaterally 15 days after ovariectomy or sham surgery. The rats were weighed and killed at 7, 21 and 45 days after tooth extraction. The results were evaluated by descriptive microscopic analysis, histomorphometry of the trabecular and osteoid volume and mast cell counts. Analysis of the results indicated that trabecular volume and mast cell counts increased significantly over time, while osteoid volume decreased over time. Comparisons between the SHAM and OVX groups demonstrated no statistical differences, while comparison between the OVX and ESP groups indicated differences in trabecular volume and the number of mast cells. The data suggest that hormonal deficiency does not delay alveolar bone repair in OVX rats; however, oestrogen deficiency associated with calcium deficiency can lead to bone resorption through the activation of mast cells.

Vitamin D intoxication: a cause of hypocalcaemia and acute renal failure in a HIV patient.

Hypercalcaemia in patients with HIV infection is usually associated with specific conditions such as lymphoma and granulomatous diseases. We described a case of severe hypercalcaemia consequent to vitamin D intoxication and secondary renal failure in a HIV patient under tenofovir using. Serum creatinine and calcium returned to near normal levels after vitamin D discontinuation, saline and furosemide administration. Some aspects of the drug-induced nephropathy are discussed.

Complicaciones de la cirugía tiroidea / Postoperative complications of thyroidectomy

En este artículo se revisan las complicaciones de la cirugía tiroidea con especial énfasis en la lesión de nervio recurrente, hipoparatiroidismo transitorio y permanente, sangrado post operatorio y la lesión de nervio laringeo superior. Se mencionan los factores de riesgo que predisponen a complicaciones quirúrgicas insistiendo en la necesidad de una técnica operatoria cuidadosa que extreme los cuidados en la hemostasia, realice una exacta localización y preservación de los nervios recurrentes y una correcta identificación del mayor número posible de glándulas paratiroides ejerciendo una manipulación depurada y cuidadosa de estas estructuras. El uso de drenajes en el lecho operatorio de la tiroidectomía es controvertido, razón por la cual se comentan los pro y contras del uso rutinario. Se concluye que la experiencia del cirujano y una técnica quirúrgica meticulosa son los factores más determinantes de la morbilidad de esta cirugía.

[Late onset epilepsy as the first symptom of pseudohypoparathyroidism]. / Epilepsia de inicio tardío como primera manifestación de pseudohipoparatiroidismo.

INTRODUCTION: The late onset epilepsy is defined like that start in the adult life after the 25 years old. The diagnostic assessment of the late onset epilepsy forces to discard, in the absence of the principal causes like stroke, tumors and trauma to the metabolic cause like plausible. The persistent hypocalcemia, apart of its acute repercussions, produces severe neurologic consequences. CASE REPORT: Feminine patient of 61 years old, that assists with a tonic clonic generalized seizure and tetany facts in the physical exam (Chvostek and Trousseau), round facies, obesity and metacarpals abnormalities. The hypocalcemia, hyperphosphatemia and resistance to parathyroid hormone (with normal levels of cAM in urine after stimulation with PTH) triad outline the pseudohypoparathyroidism. CONCLUSIONS: Consider by the clinical history, biochemical results and clinical findings consistent with Albright hereditary osteodystrophy a pseudohypoparathyroidism type Ia in this patient; is the more common form of this disorders and have a dominant pattern of inheritance, is produced by a detectable mutation in the stimulatory Gs alpha, one protein of the adenylil cyclase complex (GNAS1) that is traduced in a inefficacy of the PTH renal receptor. The main goals of treatment are reduce and maintain the serum calcium and PTH levels, respectively.

Changes in amelogenesis in the rat incisor following short-term hypocalcaemia.

There is a relationship between hypocalcaemia and the enamel hypoplasia. Earlier studies in rats have reported a severe hypocalcaemia and enamel hypoplasia a month after thyro-parathyroidectomy (TPTX). The aims of this study were to look at earlier stages and to attempt to correlate morphological changes with alterations in the distribution of amelogenin. Twenty-five Wistar rats were, under anaesthesia, thyro-parathyroidectomized. Sham operated rats were included as controls. After 14, 30 or 57 days, the animals were reanesthatized and the tissues fixed by intracardiac perfusion of fixative. The lower incisors were processed for light microscopy and immunogold electron microscopy. After 14 days the thyro-parathyroidectomised rats were severely hypocalcaemic but amelogenesis was morphologically similar to controls. After 30 and 57 days, enamel defects were observed in the late secretory and early maturation stages in the thyro-parathyroidectomised rats. The immunocytochemical study revealed a concentration of stippled material immunolabelled for amelogenin at the secretory pole of the ameloblasts in the hypocalcaemic rats. The absence of enamel defects after 14 days suggests that this was an insufficient hypocalcaemic period to induce morphological alterations. The concentration of stippled material containing amelogenin suggests that alterations in matrix formation may be the basis of the morphological changes.

Hipocalcemia neonatal precoz en recién nacidos con factores de riesgo

Siendo la hipocalcemia en los recién nacidos con factores de riesgo un tema no estudiado en nuestro medio, es que se decidio realizar el presente trabajo en el Servicio de Neonatología del HRHD y HAG de Arequipa, cuyos objetivos fueron determinar la frecuencia de hipocalcemia en los recién nacidos con factores de riesgo y sin factores de riesgo estos últimos con peso adecuado para edad gestacional y a término y comparar los valores de calcemia encontrados en ambos grupos. La muestra fue obtenida de una vena del dorso de la mano mediante punción con aguja estéril y para el dosaje de calcio se tomo plasma mediante micrométodo y utilizando reactivo Cfx y espectrofotómetro. Se seleccionaron 60 recién nacidos: 30 con factores de riesgo y 30 a término, peso adecuado y sin factores de riesgo. La frecuencia de hipocalcemia en los recién nacidos con factores de riesgo(prematuridad e hipoxia) fue de 30 por ciento y los del grupo control de 3.3 por ciento; por consiguiente la frecuencia de hipocalcemia es significativamente mayor en el primer grupo, ademas los valores de calcemia en el grupoo de riesgo fueron significativamente menores que los del grupo control, ademas se encontró que los recién nacidos a término con peso bajo(RCIU) no representan factor de riesgo para desarrollar hipocalcemia