Interpreting epigenetic causes of recurrent hypokalemia and seizures: Gitelman syndrome co-exist with pseudohypoparathyroidism type 1B.

We describe a unique case of 27-year-old male with Gitelman syndrome (GS) co-exist with pseudohypoparathyroidism type 1B (PHP1B). The patient presented with a 5-year history of seizures, tetany, and numbness of the extremities. Further examinations showed recurrent hypokalemia, inappropriate kaliuresis, hypocalcemia, hyperphosphatemia, and elevated PTH levels. A novel variant of autosomal recessive GS (p.Val287Met SLC12A3) and a novel 492.3Kb deletion containing the whole of STX16, were discovered by a whole-exome sequencing. Following the diagnosis, calcitriol, calcium, and potassium supplements were started. Hematuria calcium and phosphorus levels, as well as blood potassium levels, have recovered and remained within normal ranges after 3 years of follow-up. Our findings have important consequences for supporting the idea that heterozygosity for variants have effects on the patients' clinical performance with autosomal recessive inheritance disorders. Further study is need for the putative effects of the variant. Likewise, further investigation with regards to the gene-gene interaction relations between GS and other electrolyte imbalance disorders is warranted.

Impact of Dietary Factors on Brugada Syndrome and Long QT Syndrome.

A healthy regime is fundamental for the prevention of cardiovascular diseases (CVD). In inherited channelopathies, such as Brugada syndrome (BrS) and Long QT syndrome (LQTS), unfortunately, sudden cardiac death could be the first sign for patients affected by these syndromes. Several known factors are used to stratify the risk of developing cardiac arrhythmias, although none are determinative. The risk factors can be affected by adjusting lifestyle habits, such as a particular diet, impacting the risk of arrhythmogenic events and mortality. To date, the importance of understanding the relationship between diet and inherited channelopathies has been underrated. Therefore, we describe herein the effects of dietary factors on the development of arrhythmia in patients affected by BrS and LQTS. Modifying the diet might not be enough to fully prevent arrhythmias, but it can help lower the risk.

Resistant hypertension: diagnostic strategies and management.

Blood pressure that remains above target levels despite drug therapy is an increasingly common problem. The evaluation of resistant hypertension includes confirming blood pressure measurements with an automated device that works without the clinician present and with 24-hour ambulatory monitoring; assessing for target-organ damage; and determining if kidney disease is present or if the hypertension is secondary to another condition. The goal of management should be to optimize drug therapy by using different classes of appropriate drugs.

Management of prolonged post-operative ileus: evidence-based recommendations.

BACKGROUND: Prolonged post-operative ileus (PPOI) occurs in up to 25% of patients following major elective abdominal surgery. It is associated with a higher risk of developing post-operative complications, prolongs hospital stay and confers a significant financial load on health-care institutions. Literature outlining best-practice management strategies for PPOI is nebulous. The aim of this text was to review the literature and provide concise evidence-based recommendations for its management. METHODS: A literature search through the Ovid MEDLINE, EMBASE, Google Scholar and Cochrane databases was performed from inception to July 2012 using a combination of keywords and MeSH terms. Review of the literature was followed by synthesis of concise recommendations for management accompanied by Strength of Recommendation Taxonomy (either A, B or C). RESULTS: Recommendations for management include regular evaluation and correction of electrolytes (B); review of analgesic prescription with weaning of narcotics and substitution with regular paracetamol, regular non-steroidal anti-inflammatory drugs if not contraindicated, and regular or as-required Tramadol (A); nasogastric decompression for those with nausea or vomiting as prominent features (C); isotonic dextrose-saline crystalloid maintenance fluids administered within a restrictive regimen (B); balanced isotonic crystalloid replacement fluids containing supplemental potassium, in equivalent volume to losses (C); regular ambulation (C); parenteral nutrition if unable to tolerate an adequate oral intake for more than 7 days post-operatively (A) and exclusion of precipitating pathology or alternate diagnoses if clinically suspected (C). CONCLUSIONS: Recommendations have a variable and frequently inconsistent evidence base. Further research is required to validate many of the outlined recommendations and to investigate novel interventions that may be used to shorten duration of PPOI.

Abnormal Savda syndrome: long-term consequences of emotional and physical stress on endocrine and immune activities in an animal model.

OBJECTIVE: To investigate the relationship between emotional status, cold-dry environment and long-term immune responses to the stressors, and the potential pathological mechanisms between causative factors of abnormal Savda syndrome (ASS) and the susceptibility to disease; thus to clarify the ASS, and secondly to identify the optimal ASS animal model for further studies on traditional Uighur therapeutical formulations. METHODS: Sixty mice were randomly and equally divided into 4 groups: control and 3 stress groups. The cold-dry environment was applied by keeping the mice in a climatic chamber. The emotional stress was induced by the application of the repeated electric foot-shocks in the electric foot-shock apparatus. The mice of the combined stress group underwent the repeated electric foot-shock treatment before being housed in the climatic chamber. The experimental routine was repeated for 21 days. In order to look into endocrine and immune stress responses, ELISA was used to determine the serum levels of the hormones corticotropin-releasing hormone (CRH), adrenocorticotropic hormone (ACTH), Beta-endorphin (ß-END) and corticosterone (CORT), of the cytokines interleukin 2 (IL-2), interleukin 6 (IL-6), interferon-gamma (INF-γ) and tumor necrosis factor-alpha (TNF-α), and of the immunoglobulins immunoglobulin A (IgA), immunoglobulin M (IgM) and immunoglobulin G (IgG). Lymphocyte subsets were analyzed in duplicate in order to determine differences in the T cell ratio. RESULTS: In the cold-dry environment group, the serum levels of CRH, ACTH and CORT were significantly higher than those of the control group, whereas serum ß-END was not found significantly different. In both the repeated electric foot-shock group as well as in the combined stress group the serum levels of CRH, ACTH, ß-END and CORT were significantly higher. Compared to the control animals, the serum concentration of INF-γ was significantly lower in all three different stress groups. The serum level of IL-2 was decreased in the combined stress group whereas the serum TNF-α level was significantly higher. The serum IgG level was significantly higher in all three stress groups, whereas the IgA level was lower in both chronic electric foot-shock group and combined stress group. The IgM level was found significantly higher in the combined stress group only. The percentage of CD4(+) cells in peripheral blood was dramatically decreased in mice exposed to colddry environment, chronic electric foot-shock and combined stress, whereas the percentage of the CD8(+) subset was not significantly different. The CD4(+)/CD8(+) ratios were markedly lower in both cold-dry environment group and combined stress group. CONCLUSIONS: Combined stress can cause hyperactivity of the HPA axis, and an imbalance in the Th1/Th2 cell subset may contribute to illustrate the partial pathological mechanisms of ASS. This study identified this animal model of a combination of physical and emotional stress as an optimal model for further studies on ASS and relative therapies.

[The role of disbalance of zinc and copper in school age children with community-aquired pheumonia].

The article analyzed 60 patients with community-aquired pneumonia from ages 6 to 18 years. The dependences of trace levels of zinc and copper in the serum of these children on the activity of the inflammatory process. Analysis of survey results showed that in children with community-aquired pneumonia was observed imbalance of trace elements Zn, Cu. Severity of such violations depended mainly on severity disease and to a lesser extent on age. Normalization of detected metabolic microelement content in a period of convalescence practically advancing. In children at acute stage of community-aquired pneumonia inflammation was observed with pronounced zinc deficiency (P < 0,001), and its content in blood serum is directly dependent on the acuity and severity of inflammation. Use of the drug, which contains zinc as part of adjuvant therapy in community-aquired pneumonia in children led to more rapid normalization of serum microelement parameters, apparently due to modulating effects on microelement status and immune status. To increase the effectiveness of treatment of community-aquired pneumonia in school-age children, its recommended to use zinc containing drug.

Dyselectrolytemia in acute kidney injury causing tetany and quadriparesis.

A 40-year-old female, presented with prerenal acute kidney injury secondary to diarrhoea. With appropriate hydration, she went into diuretic phase and subsequently developed hypokalemic quadriparesis with hypocalcaemic tetany due to hypomagnesemia and subclinical vitamin D deficiency. The patient improved with oral potassium, magnesium, calcium and vitamin D supplementation.

Anorexia nervosa e síndrome de realimentação em adolescente: relato de caso / Anorexia nervosa and refeeding syndrome in adolescents: case report

Introdução: anorexia nervosa é um transtorno alimentar que acomete geralmente adolescentes e pode resultar em desnutrição grave. A síndrome de realimentação constitui-se em desordem hidroeletrolítica grave, potencialmente fatal, que ocorre após reintrodução abrupta da dieta. Objetivo: alertar quanto à gravidade dessa síndrome e identificar os pacientes em risco de desenvolvê-la, a fim de evitar sua ocorrência. Relato do caso: paciente de 13 anos de idade, admitida em unidade de terapia intensiva com índice de massa corpórea (IMC) de 9,9 kg/m2, hipotensão, bradicardia, hipotermia e níveis séricos baixos de potássio, cálcio e fosfato. A paciente evoluiu, após o início da dieta, com agravamento dos distúrbios hidroeletrolíticos, instabilidade hemodinâmica e pancitopenia. As alterações apresentadas foram diagnosticadas como síndrome de realimentação, sendo necessária suplementação eletrolítica e monitoração rigorosa. Conclusão: apesar da desnutrição causada pela anorexia nervosa ser potencialmente grave, a reintrodução da dieta deve ser cautelosa, priorizando a correção hidroeletrolítica, para evitar-se a síndrome de realimentação.

Introduction: anorexia nervosa is an eating disorder that usually affects teenagers and can result in severe malnutrition. The refeeding syndrome is a serious hydro electrolyte disorder, potentially fatal, occurring after the abrupt diet reintroduction. Objective: To warn about the seriousness of this syndrome and identify patients at risk of developing it in order to prevent its occurrence. Case report: a 13 years old patient, admitted at the intensive care unit with body mass index (BMI) of 9,9 kg/m2, hypotension, bradycardia, hypothermia and low serum levels of potassium, calcium and phosphate. After starting the diet, the patient developed increase of hydroelectrolyte imbalance, hemodynamic instability and pancytopenia. The alterations have been diagnosed as refeeding syndrome, requiring electrolyte supplementation and rigorous monitoring. Conclusion: Although malnutrition caused by anorexia nervosa is potentially serious, the reintroduction of the diet should be cautious, emphasizing the hydroeletrolytic correction, to avoid the refeeding syndrome.

[Female infertility from the perspective of Chinese medicine].

Infertility is a common condition. Because of traditional Chinese concepts that emphasize the importance of consanguinity, infertility has been a problem long recognized in Chinese history. The subject of infertility was addressed in the I-Jing, written some 3,000 years ago. The Nei-Jing, written during China's Warring States Period, described the mechanisms of infertility. Afterward, the library of knowledge on infertility steadily grew and became more sophisticated. The causes of female infertility in Chinese medicine include congenital deformity, menstruation abnormalities, organ dysfunctions, disturbances in the Qi or blood, malfunctions in the Chong or Ren meridians, emotional effects and the compression of concretions or conglomerations. Based on symptoms and mechanisms, female infertility can be classified into five patterns, including congenital deformity, kidney vacuity, liver depression, phlegm-damp and blood stasis. Chinese medicinal therapies for female infertility include Chinese herb drugs with pattern identification, artificial menstruation cycle therapy, single formula therapy, combined Chinese and Western medicine therapy, acupuncture and moxibustion. The relatively large range of therapies, while a hallmark of Chinese medicine, also points up instabilities in treatment outcomes. Thus, determining the most effective therapy is the most important point of clinical studies.

Acute renal failure and metabolic disturbances in the short bowel syndrome.

BACKGROUND: Short bowel syndrome (SBS) describes a malabsorptive state caused by extensive loss of small intestinal length. AIM: To improve understanding of the metabolic complications of SBS. DESIGN: Observational study of five patients with SBS who presented with acute renal failure. RESULTS: Acute renal failure in our patients was predominantly due to salt and fluid depletion, and sepsis. Electrolyte imbalance was a major cause of morbidity. Metabolic acidosis was seen in three patients, and may arise from excessive gastrointestinal bicarbonate loss, compounded by impaired renal homeostasis. Our patients also manifested disturbances of calcium and magnesium homeostasis. DISCUSSION: Patients with SBS are at high risk of renal failure. Prevention of this complication requires close monitoring and the maintenance of sodium homeostasis through increased intake and measures to reduce loss (e.g. anti-motility agents and large bowel re-anastomosis), and calcium, magnesium and vitamin D supplementation.

Ventricular tachycardia associated with exhaustive exercise in a horse.

Ventricular tachycardia was diagnosed in a 12-year-old unconditioned Appaloosa gelding after a 3-day trail ride. Initial signs were those of abdominal discomfort, ileus, and dehydration. Medical treatment included IV administration of lactated Ringer's solution. During hospitalization, the horse developed ventricular tachycardia. Serum potassium concentrations were within reference limits; however, assessment of total body potassium stores was not performed. Resolution of the arrhythmia occurred with further fluid treatment and potassium supplementation. Cardiac arrhythmias should be considered in horses in which fluid and electrolyte disturbances are evident after exhaustive exercise.

Hypodipsic hypernatremia in a dog with defective osmoregulation of antidiuretic hormone.

Hypernatremia was detected in a dog that was evaluated because of seizures. During hospitalization, the dog was fully conscious and remained hypernatremic when drinking voluntarily and when water was added to the food. Urine volume increased and urine osmolality decreased during an infusion of hypertonic saline (2.5% NaCl) solution, despite development of progressive hyperosmolality. There was no correlation between plasma antidiuretic hormone concentration and osmolality during the infusion study. The dog released antidiuretic hormone normally after nonosmotic stimulation (ie, apomorphine administration). These findings allowed a diagnosis of hypodipsic hypernatremia caused by destruction of hypothalamic osmoreceptors. At necropsy, there was hydrocephalus, atrophy of the septum pellucidum, and neuraxonal dystrophy of the cuneate nuclei. The underlying neurologic disease responsible for the CNS lesions could not be determined, but hydrocephalus may have led to pressure atrophy in the region of the hypothalamus that contains osmoreceptors.

Fluid restriction for preventing bronchopulmonary dysplasia? Reduced fluid intake during the first weeks of life improves the outcome of low-birth-weight infants.

One hundred consecutive low-birth-weight infants (less than 1751 g) were randomized equally into "dry" and "control" groups. Fluid administration in the dry group followed the schema 50, 60, 70, 80, 90, 100 and 120 ml/kg/day during the first week and 150 ml/kg/day until aged four weeks and that of the control group 80, 100, 120 and 150 ml/kg/day during the first week and 200 ml/kg afterwards. The diagnosis of bronchopulmonary dysplasia was based on typical roentgenographic findings, clinical symptoms and a supplemental oxygen requirement at age one month. Mean weight loss was greater in the dry group than in the control group (8.8 vs 6.2%), but there was no difference in weight between the groups at the age of four weeks. Twelve of the patients died, one in the dry group and 11 in the control group (five died during the first 24 h and the remaining six between three days and three months). Twenty-seven subjects in the dry group and 15 in the control group were alive and had no signs of bronchopulmonary dysplasia at age 28 days (p less than 0.05), the numbers at term being 28 and 14, respectively (p less than 0.01). These results suggest that fluid restrictions can reduce the mortality and morbidity of low-birth-weight infants. Infants of this kind, with respiratory distress, show poor tolerance to fluids, especially during the first weeks of life.

Controversies in the pathophysiology and fluid management of postoperative adult respiratory distress syndrome.

Physiologic changes that lead to the development of ARDS begin with the precipitating shock syndrome. Hypovolemia, pulmonary vasoconstriction, reduced myocardial performance, and diminished O2 transport typically precede the development of clinical ARDS after hemorrhage, trauma, postoperative conditions, and sepsis. Since shock lung is a complication of shock, it is not surprising that the antecedent clinical and physiologic events that characterize the shock state may be determinants of both the genesis and the outcome of ARDS. Postoperative ARDS follows unrecognized or inadequately treated hypovolemia and hypoxia during an antecedent period of preoperative or intraoperative shock. Hypovolemia and hypoxia increase cardiac and ventilatory drive and stimulate neurohumoral mechanisms to increase pulmonary vasoconstriction. The last-named, when extensive and uneven, produces maldistribution of flow and reduces DO2 and VO2. Subsequently, mediator-induced pulmonary vasoconstriction increases the problem. When sufficiently extensive, these antecedent physiologic alterations culminate in ARDS. With impaired flow and O2 transport, pathogenic mechanisms of ARDS and acute renal failure may be set in motion; further, the naturally occurring immune mechanisms may be impaired and may lead to associated infection. There are at least six redistributions that are major pathophysiologic influences in ARDS. They are uneven ventilation throughout the lung; redistribution of regional pulmonary blood flow between zones due to gravity; nonuniform pulmonary blood flow between individual metarteriolar-capillary networks because of local vasoconstriction; uneven systemic blood flow between organs; irregular systemic blood flow at the microcirculatory level, producing inadequate nutritional flow to the tissues; and redistribution of body water, leading particularly to fluid accumulation in the extracellular compartment, with expanded interstitial space and contracted plasma volume (hypovolemia). Pathogenic roles have been implicated for capillary leak, surfactant synthesis, erythrocyte and platelet aggregation, leukocyte margination in the pulmonary circulation, complement and kinin cascades, neurohumoral responses, histamine, serotonin, vasoactive peptides, and the metabolic products of arachidonic acid breakdown in pulmonary vessels. However, these potential pathogenic influences have yet to be described in terms of their temporal relationships to the natural physiologic history of ARDS; nor have their roles been evaluated in terms of mechanistic interrelationships.(ABSTRACT TRUNCATED AT 400 WORDS)