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1.
SAGE Open Med Case Rep ; 12: 2050313X241245281, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38595944

RESUMO

Reversed flow in the basilar artery can be acquired or congenital. Acquired reversed flow in the basilar artery can result from acute thrombosis of the basilar artery or retrograde vertebral artery flow. Congenital continuous retrograde basilar artery flow has not been described. We report a 2-day-old male presenting with hypocalcemic seizures which led us to obtain a Duplex echoencephalogram. An echocardiogram was subsequently ordered. In the coronal plane through the anterior fontanelle, retrograde flow was seen in the basilar artery and the right vertebral artery. In the axial plane through the temporal window, the flow was anteroposterior in both posterior communicating arteries. In the posterior cerebral arteries, the flow was retrograde in the P1 segment and anterograde in the P2 and P3 segments. An interrupted aortic arch was suspected. The echocardiogram showed a large perimembranous ventricular septal defect with bidirectional shunting, a hypoplastic and bicuspid aortic valve, an aortic arch interrupted between the left common carotid artery and the left subclavian artery (type B interrupted aortic arch), and a 5 mm patent ductus arteriosus with predominant right to left flow. Because of the patency of the large patent ductus arteriosus, our patient showed no sign of posterior circulation insufficiency. Prostaglandin E1 therapy was initiated immediately. Diagnosis of DiGeorge syndrome was proven. The infant underwent interrupted aortic arch repair and anterograde flow was established in the basilar artery. We conclude that congenital asymptomatic continuous retrograde flow in the basilar artery and left vertebral artery is a medical emergency as it implies the presence of type B interrupted aortic arch with large patent ductus arteriosus in a neonate.

2.
Artigo em Inglês | MEDLINE | ID: mdl-38193027

RESUMO

Vitamin D-dependent rickets type II (VDDR2) is a rare inherited autosomal recessive disorder wherein the genetic mutation results in a defect in the vitamin D receptor (VDR), thus leading to target resistance to 1.25-dihydroxy vitamin D. This results in hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and rickets. We report a case of a four-year-old female child with diffuse alopecia starting 2 weeks after birth, along with frontal bossing, hypoplastic teeth, and an unusual presentation of multiple skin-colored papules over the back. Genetic testing confirmed vitamin D-dependent rickets type 2A.

3.
Front Cardiovasc Med ; 10: 1166600, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37671133

RESUMO

Hypocalcemic cardiomyopathy is a rare etiology of heart failure. It is considered highly reversible with a relatively favorable prognosis. This case reports a 52-year-old housewife diagnosed with hypocalcemic cardiomyopathy who presented with acute decompensated heart failure and hypocalcemia symptoms with a history of thyroidectomy. Shortness of breath and edema were relieved after diuresis and prompt electrolyte correction. The left ventricular ejection fraction increased from 27% to 53%, and the left ventricular end-diastolic dimension shortened from 58 to 50 mm in echocardiographic re-examinations, while repeat cardiac magnetic resonance imaging revealed evidence of non-reversible cardiac fibrosis after 1-year follow-up. Cardioprotective agents with close follow-ups were called for in this entity of patients.

4.
Front Endocrinol (Lausanne) ; 14: 1215036, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37654565

RESUMO

Autosomal dominant hypocalcemia (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of parathyroid hormone. The disease is caused by a heterozygous activating mutation of the calcium-sensing receptor (CaSR) gene, encoding a G-Protein-coupled cell membrane sensor of extracellular calcium concentration mainly expressed by parathyroid glands, renal tubules, and the brain. ADH1 has been linked to 113 unique germline mutations, of which nearly 96% are missense mutations. There is often a lack of a clear genotype/phenotype correlation in the reported literature. Here, we described a case series of 6 unrelated ADH1 probands, each one bearing a gain-of-function CaSR mutation, and two children of one of these cases, matching our identified mutations to the same ones previously reported in the literature, and comparing the clinical and biochemical characteristics, as well as the complication profile. As a result of these genetic and clinical comparisons, we propose that a genotype/phenotype correlation may exist because our cases showed similar presentation, characteristics, and severity, with respect to published cases with the same or similar mutations. We also contend that the severity of the presentation is highly influenced by the specific CaSR variant. These findings, however, require further evaluation and assessment with a systematic review.


Assuntos
Mutação com Ganho de Função , Receptores de Detecção de Cálcio , Receptores de Detecção de Cálcio/genética , Cálcio , Pesquisa , Mutação
5.
J Int Med Res ; 51(8): 3000605231193820, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37622441

RESUMO

Idiopathic hypoparathyroidism is a rare endocrine disorder characterized by hypocalcemia secondary to inadequate parathyroid hormone secretion. Hypocalcemia-related cataract is most often observed in patients with postoperative hypoparathyroidism, whereas primary hypoparathyroidism-related cataract is rare and displays slow progression. Cataract usually occurs in people aged 18 to 50 years. Here, we describe a 17-year-old boy with bilateral cataract and a history of hypocalcemic tetany who was diagnosed with idiopathic hypoparathyroidism. Phacoemulsification with implantation of a monofocal aspherical intraocular lens was performed in the right eye; 6 months later, it was performed in the left eye. Elevated phosphorus and diminished calcium were observed in blood and aqueous humor. A deep anterior chamber, relatively thin central corneal thickness, large white-to-white distance, and thin lens were also observed. During follow-up, neither eye displayed intraocular lens decentration; best-corrected visual acuity was 20/20 in both eyes. These findings suggest that ophthalmologists should be vigilant when hypocalcemic tetany and cataract are present, especially in adolescents and young adults.


Assuntos
Catarata , Hipocalcemia , Hipoparatireoidismo , Tetania , Masculino , Adulto Jovem , Humanos , Adolescente , Hipocalcemia/complicações , Hipocalcemia/diagnóstico , Catarata/complicações , Hipoparatireoidismo/complicações , Olho
6.
J Med Case Rep ; 17(1): 337, 2023 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-37501199

RESUMO

BACKGROUND: Acute hypocalcemia is generally caused by a sudden drop in serum calcium ion and presents with a mild or severe form of tetany. Even though the occurrence of hypocalcemia is well documented with certain drugs such as calcium chelators, bisphosphonates, and cisplatin, it is a very unusual and poorly documented adverse event with cimetidine and nifedipine. Here, we present a case of severe hypocalcemic tetany during simultaneous administration of cimetidine and nifedipine in a hypertensive patient with dyspepsia. CASE PRESENTATION: A 46-year-old known human immunodeficiency virus patient from Ethiopia on antiretroviral therapy over the past 14 years presented to the emergency department with acute exacerbation of dyspepsia and hypertensive urgency. She was given intravenous cimetidine (400 mg) and oral nifedipine (30 mg) simultaneously. One hour after the administration of these two drugs, she developed severe hypocalcemic tetany with carpopedal spasm, involuntary plantar flexion, and muscle spasms. She also had severe retrosternal chest pain and shortness of breath. Her blood pressure was 160/110 mmHg during the attack and she had no skin changes, such as urticaria. She was immediately given 1 g of calcium gluconate intravenously over 30 minutes. The carpopedal spasm progressively decreased during calcium gluconate administration. An hour later, she completely regained voluntary movement of her fingers and feet. The chest pain persisted, but resolved over the next 12 hours. The patient was discharged home after 2 days of observation. This is an unusual adverse effect that needs caution during concomitant administration of these drugs. CONCLUSIONS: Severe hypocalcemic tetany can occur with concomitant administration of cimetidine and nifedipine. Immediate treatment with calcium gluconate quickly reverses this adverse event. Concomitant administration of these drugs should be done with caution or be avoided if possible.


Assuntos
Dispepsia , Hipocalcemia , Tetania , Feminino , Humanos , Pessoa de Meia-Idade , Tetania/induzido quimicamente , Tetania/complicações , Tetania/tratamento farmacológico , Hipocalcemia/induzido quimicamente , Cimetidina/uso terapêutico , Nifedipino/efeitos adversos , Gluconato de Cálcio/uso terapêutico , Espasmo
7.
J Surg Res ; 291: 250-259, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37478649

RESUMO

INTRODUCTION: Hypocalcemia following total thyroidectomy (TT) is common due to postoperative parathyroid dysfunction and vitamin D deficiency. Given the association between obesity and vitamin D deficiency, we sought to correlate body mass index (BMI) with hypocalcemia after TT. METHODS: Patients undergoing TT between 2016 and 2020 were identified from the American College of Surgeons National Surgical Quality Improvement Program thyroidectomy-targeted database. Univariable and multivariable regressions, stratified by BMI category (normal, overweight, obese), identified factors associated with hypocalcemia prior to discharge, within 30 d, and severe hypocalcemic events (emergent evaluation, intravenous calcium supplementation, or readmission). RESULTS: Sixteen thousand two hundred seventy seven TT were performed with available BMI data. Three thousand five hundred thirty one (21.7%) patients had normal BMI, 4823 (29.6%) were overweight, and 7772 (47.7%) were obese. Patients with BMI ≥ 25 had decreased risk of hypocalcemia before discharge (9.8% versus 13%, odds ratio [OR] 0.73, P < 0.001), 30 d (8.1% versus 10.4%, OR 0.76, P < 0.001), and severe hypocalcemic events (5.5% versus 6.4%, OR 0.84, P = 0.029) compared to normal BMI patients. On multivariable analysis for normal BMI patients, age < 45 y was a risk factor for hypocalcemia before discharge, 30 d, and severe hypocalcemic events (P < 0.05 for all). Additional risk factors in this group for 30-d hypocalcemia included parathyroid autotransplant and central neck dissection (P < 0.05) and recurrent laryngeal nerve injury for severe hypocalcemic events (P = 0.01). CONCLUSIONS: Younger patients with BMI < 25 are at an increased risk for hypocalcemia and severe hypocalcemic events after TT. These patients may benefit from preoperative counseling and increased calcium/vitamin D supplementation to reduce prolonged hospitalization and mitigate morbidity.


Assuntos
Hipocalcemia , Deficiência de Vitamina D , Humanos , Hipocalcemia/epidemiologia , Hipocalcemia/etiologia , Cálcio , Tireoidectomia/efeitos adversos , Sobrepeso , Melhoria de Qualidade , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Deficiência de Vitamina D/complicações , Obesidade/complicações , Hormônio Paratireóideo
8.
J Endocr Soc ; 8(1): bvad158, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38174154

RESUMO

Context: The identification of parathyroid tumor(s) in patients with persistent/recurrent primary hyperparathyroidism (PHPT) is critical for a successful reoperative surgery. If noninvasive studies (ultrasound, computed tomography, magnetic resonance imaging, sestamibi) fail to conclusively localize the tumor, invasive procedures (arteriography and selective venous sampling) are performed. Objective: To describe our experience with invasive studies for parathyroid tumor localization and provide follow-up data on selective arterial hypocalcemic stimulation with central venous sampling, a technique developed at our center. Methods: We identified patients who underwent preoperative invasive testing for localization of parathyroid tumor from 1991 to 2020. The result of each invasive localization study [arteriogram, hypocalcemic stimulation and selective venous sampling (SVS)] was categorized as true-positive, false-positive, and false-negative based on histology and biochemical outcome. Results: Ninety-four patients with 96 tumor occurrences underwent invasive testing for parathyroid tumor localization. Arteriogram, hypocalcemic stimulation, and SVS accurately localized the tumor in 47 of 94 (50%), 56 of 93 (60%), and 51 of 62 (82%) tumors, respectively. Hypocalcemic stimulation was more likely to correctly localize the tumor when arteriogram showed a blush [37 of 50 (74%) vs 19 of 43 (44%), P = .01]. When both arteriogram and hypocalcemic stimulation yielded concordant positive findings, SVS did not change management in the 18 cases in which all 3 were performed. Twelve patients remained with persistent PHPT; all had recurrent disease with multiple affected glands. Conclusion: Hypocalcemic stimulation is a useful adjunct in patients with PHPT who require invasive localization and can obviate the need for SVS. Clinical Trial number: NCT04969926.

9.
Front Endocrinol (Lausanne) ; 13: 998675, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36440223

RESUMO

Background: The diagnosis of neonatal hypocalcemic seizures (HS) in newborns is made based on clinical signs and serum calcium level. Their etiology is broad and diverse, and timely detection and initiation of treatment is essential. Methods: We retrospectively reviewed 1029 patients admitted to the neonatal intensive care unit. Neonatal HS were diagnosed in 16 patients, and we compared etiologies and clinical outcomes, including clinical seizures and neurodevelopment at least over 1 year old. Results: The etiologies can be broadly categorized into 5 syndromic and 11 non-syndromic neonatal HS. Syndromic neonatal HS included 3 Digeorge syndrome, 1 Kleefstra syndrome and 1 Alström syndrome. Non-syndromic neonatal HS included 8 vitamin D deficiency, 1 hypoparathyroidism, and 2 hypoxic-ischemic encephalopathy. Patients with syndromic neonatal HS were found to have worse clinical outcomes than those with nonsyndromic HS. In eight patients with vitamin D deficiency, neurodevelopment was normal. Five of five patients (100%) with syndromic HS used two or more antiseizure drugs. However, among patients with non-syndromic neonatal HS, only one of 11 (9.1%) used more than one drug (p = 0.001). Conclusion: This finding highlighted that syndromic hypocalcemic seizures in newborns have worse neurodevelopmental outcomes and are more often difficult to manage, and would benefit from a genetic diagnostic approach.


Assuntos
Convulsões , Deficiência de Vitamina D , Lactente , Humanos , Recém-Nascido , Estudos Retrospectivos , Convulsões/complicações , Deficiência de Vitamina D/complicações
10.
Front Cardiovasc Med ; 9: 999550, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36176987

RESUMO

Hypocalcemia and its related symptoms are common manifestations in postsurgical hypoparathyroidism, but patients with hypocalcemia manifested as heart failure is rare and few cases are reported in the literature. Here we reported a 58-year-old female with hypoparathyroidism and uncontrolled hypocalcemia after thyroidectomy, presented with acute heart failure, accompanied with enlargement and reduced ejection fraction of left ventricle. She was refractory to guideline-directed medical therapy for heart failure including digitalis and diuretics. However, her symptoms resolved and cardiac function improved dramatically after normalization of serum calcium level. This rare case highlights the pivotal role of calcium in maintaining cardiac function and the importance of treating underlying reversible causes of heart failure. For patients with hypoparathyroidism, it is essential to get standard treatment to avoid development of heart failure and hypocalcemia related syndromes.

11.
J Int Med Res ; 48(8): 300060520936445, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32867556

RESUMO

We report a case of a Chinese neonate who was diagnosed with Noonan syndrome and had persistent, self-limited thrombocytopenia. The neonate was admitted to the Neonatology Department 20 minutes after birth because of respiratory distress. From birth until 2 months of age, platelet values fluctuated between approximately 6 and 30 × 109/L. There was no intracranial hemorrhage. However, the child had a transient hypocalcemic seizure and fever. We excluded thrombocytopenia caused by perinatal asphyxia, immune thrombocytopenia, fetomaternal alloimmune thrombocytopenia, juvenile myelomonocytic leukemia, and chromosome 13, 18, and 21 trisomy syndromes. Despite treatment with anti-infective agents and transfusion of platelets and immunoglobulin, the platelet count did not return to the normal range. Genetic testing confirmed a PTPN11 gene mutation, which led to the diagnosis of Noonan syndrome. At 3 months of age, the platelet count gradually increased without intervention and returned to the normal range by 6 months. We speculate that the thrombocytopenia in this case was closely related to Noonan syndrome.


Assuntos
Síndrome de Noonan , Trombocitopenia , Plaquetas , Criança , Feminino , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Síndrome de Noonan/complicações , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Contagem de Plaquetas , Gravidez , Trombocitopenia/complicações , Trombocitopenia/diagnóstico
12.
J Int Med Res ; 48(7): 300060520942115, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32700587

RESUMO

Hypocalcemia is a rare, but reversible, cause of dilated cardiomyopathy. Although cardiomyopathy may cause severe heart failure, calcium supplementation can reverse heart failure. We report here a patient with uremia and secondary hyperparathyroidism, who was complicated by persistent hypocalcemia and refractory heart failure. The cardiac failure was refractory to treatment with digitalis and diuretics, but dramatically responded to calcium therapy and restoration of normocalcemia. As a result, the patient was eventually diagnosed with hypocalcemic cardiomyopathy. To the best of our knowledge, this is the first case of this disease to be reported in a patient with uremia. Findings from our case may help clinicians to better understand hypocalcemic cardiomyopathy. Our case might also provide new insight into long-term cardiac complications and prognoses of patients undergoing parathyroidectomy due to secondary hyperparathyroidism.


Assuntos
Cardiomiopatias , Hipocalcemia , Hipoparatireoidismo , Uremia , Cálcio , Humanos , Hipocalcemia/complicações , Paratireoidectomia , Uremia/complicações
13.
Schweiz Arch Tierheilkd ; 161(10): 619-625, 2019 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-31586924

RESUMO

INTRODUCTION: In most cases, bovine recumbency (downer cow syndrome) is a complication of periparturient hypocalcemia, but may also be caused by other metabolic disorders, trauma, toxic mastitis or metritis. An important treatment measurement in the recumbent cattle is to bring the cow to its feet, in order to avoid quickly occurring secondary damage. Various lifting systems are on the market, such as a cow lift with a supporting harness or hip clamps. Such lifting systems are easy to use and relatively inexpensive. However, these techniques can cause secondary injuries and ischemic pressure damage. An alternative method is the use of a specially designed flotation tank. The buoyancy of the water gently lifts the cattle avoiding secondary, neuromuscular lesions. The success rate in the therapy of recumbent cattle can be significantly improved by the correct and early use of suitable lifting techniques. In this review, the most common lifting techniques for recumbent cattle are summarized.


INTRODUCTION: La parésie chez les bovins est généralement provoquée par une carence en calcium liée à la mise-bas mais peut également être due à d'autres troubles métaboliques, à un traumatisme, à une mammite toxique ou à une métrite. Le relevage des animaux affectés est une étape importante dans le concept de thérapie pour les bovins souffrant de parésie afin d'éviter de rapides dommages secondaires. Il existe sur le marché plusieurs systèmes qui peuvent être utilisés, tels que des appareils de relevage avec des sangles, des hamacs ou des pinces de hanche. Ces aides au relevage sont rapides à mettre en œuvre, faciles à utiliser et relativement peu coûteuses. Cependant, il faut se rappeler que ces techniques peuvent causer d'autres blessures ainsi que des lésions de pression. Une autre méthode consiste à utiliser un bain d'eau. La poussée de l'eau soulève l'animal en douceur et évite ainsi les lésions neuromusculaires secondaires. Le taux de succès du traitement des patients parésiques peut être significativement amélioré par l'utilisation correcte et précoce de techniques de levage appropriées. Dans cette revue, les techniques de levage les plus courantes pour les bovins parésiques sont résumées et brièvement présentées.


Assuntos
Doenças dos Bovinos , Movimentação e Reposicionamento de Pacientes , Postura/fisiologia , Animais , Bovinos , Doenças dos Bovinos/etiologia , Doenças dos Bovinos/fisiopatologia , Doenças dos Bovinos/terapia , Hipocalcemia/complicações , Hipocalcemia/veterinária , Movimentação e Reposicionamento de Pacientes/efeitos adversos , Movimentação e Reposicionamento de Pacientes/métodos , Movimentação e Reposicionamento de Pacientes/veterinária
14.
Ann Pediatr Endocrinol Metab ; 24(2): 129-132, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31261478

RESUMO

We report a case of transient pseudohypoparathyroidism in a full-term newborn that presented at 20 hours of life with hypocalcemic seizures, hyperphosphatemia and raised parathormone levels. The diagnosis of pseudohypoparathyroidism was made according to biochemical investigations. The infant was treated with calcium supplementation and vitamin D analog therapy, and he remained stable and symptom-free with normal serum biochemistries during follow-up. We suggest that transient pseudohypoparathyroidism of the newborn (ntPHP) might be included among inactivating parathyroid hormone (PTH)/PTH-related protein signaling disorders as defined by the classification schema recently proposed by the European Pseudohypoparathyroidism Network. To the best of our knowledge, this is the first report in which the new classification has been applied to a case of ntPHP.

15.
J Clin Apher ; 33(5): 600-603, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30098216

RESUMO

We compared two methods of calcium gluconate infusion to maintain plasma ionized calcium ([Ca2+ ]) during therapeutic plasma exchange (TPE) performed using the Spectra Optia Apheresis System. Method A, our legacy method, consisted of adding 5 mL of 10% calcium gluconate to each 500 mL bottle of 5% albumin replacement fluid. Method B used an accessory IV infusion of calcium gluconate (2 g in 50 mL of 0.9% NaCl starting at 25 mL/h). Plasma [Ca2+ ] was measured at 20-minute intervals, and symptoms of hypocalcemia were recorded during TPE. Baseline [Ca2+ ] was the same (P = 0.616), as was total acid citrate dextrose Formula A used (P = 0.865), with either method. TPE with method A used 2.62 ± 0.52 g of calcium gluconate vs 1.13 ± 0.27 g with method B (P < 0.001). [Ca2+] remained stable with method A (P = 0.251), but fell on average by 5% with method B (P < 0.05). Hypocalcemic symptoms were reported in 0 of 23 TPE with method A and 2 of 24 TPE with method B. We conclude that both methods A and B prevent a symptomatic fall in plasma [Ca2+ ] during TPE. Method B requires significantly less calcium gluconate than does method A.


Assuntos
Gluconato de Cálcio/administração & dosagem , Hipocalcemia/prevenção & controle , Troca Plasmática/efeitos adversos , Cálcio/metabolismo , Ácido Cítrico , Glucose/análogos & derivados , Humanos , Infusões Intravenosas , Troca Plasmática/métodos , Pré-Medicação/métodos
16.
Protein Pept Lett ; 25(5): 500-509, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29745315

RESUMO

BACKGROUND: With more countries in the world entering elderly society, osteoporosis is a common disease among the elderly, especially middle-aged and elderly women. Although calcitonin is an effective drug used to treat osteoporosis in clinical practice, it also exists such problems as high cost, short half-life, and high immunogenicity. Therefore, to explore more efficient calcitonin has important clinical significance. OBJECTIVE: Given the emergence of new-generation gene sequencing, numerous genome sequences of marine species have been revealed. This study aimed to identify new, highly active Calcitonins (CTs) from the gene database. METHODS: Candidate CT sequences were obtained by BLAST and analyzed. The evolutionary tree of these sequences was constructed using the Neighbor-Joining method of MEGA 7 software. Secondary structures were analyzed by Circular Dichroism (CD). The biological activities of CTs were estimated using the standard of the rat hypocalcemic activity assay in vivo. The half-life and immunogenicity of CT sequences were determined by ELISA. The physicochemical properties of peptides were analyzed with ProtParam and HeliQuest. RESULTS: A total of 64 candidate CT gene and amino acid sequences from different species were obtained by BLAST using the salmon CT (sCT) sequence as the query sequence. These sequences were clustered to 27 different CT polypeptide sequences, and then the evolutionary tree was constructed. A total of 13 sequences were selected for chemical synthesis and activity assay. Results showed that although their secondary structures were similar, four types of candidate CTs had 30% higher activities than sCT, three other types had similar activities to sCT, and the remaining four types had much lower activities than sCT. Among the three designed CTs, the activities of CT-01 and CT-02 were at least 50% higher than those of sCT. Furthermore, all three CT sequences had a similar half-life to sCT and lower immunogenicity. CONCLUSION: CTs from Monodelphis domestica, Gallus gallus, Ornithorhynchus anatinus, and Carassius auratus had high activities. The exploration and mining of the marine-life genome database can be extremely valuable considering broad application prospect.


Assuntos
Calcitonina/química , Calcitonina/genética , Mineração de Dados , Bases de Dados Genéticas , Software , Animais , Calcitonina/metabolismo , Feminino , Humanos , Camundongos
17.
Artigo em Inglês | MEDLINE | ID: mdl-29437776

RESUMO

Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. APS-1 is classically characterized by a triad of chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenocortical insufficiency. We report a 5-yr-old female who presented with symptoms of tetany due to hypocalcemia and was subsequently found to be secondary to hypoparathyroidism. Rapid trio whole-genome sequencing revealed compound heterozygous variants in AIRE in the proband, with a paternally inherited, pathogenic, frameshift variant (c.1265delC; p.Pro422LeufsTer58) and a novel, likely pathogenic, maternally inherited missense variant (c.268T>C; p.Tyr90His).


Assuntos
Mutação , Fenótipo , Poliendocrinopatias Autoimunes/diagnóstico , Poliendocrinopatias Autoimunes/genética , Fatores de Transcrição/genética , Sequenciamento Completo do Genoma , Alelos , Pré-Escolar , Mapeamento Cromossômico , Feminino , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Proteína AIRE
18.
Indian J Pediatr ; 85(4): 307-308, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29247429

RESUMO

A one-year prospective study on developmentally normal children between 1-mo to 2-y with seizures was done to study the prevalence of hypocalcemia. The contribution of hypovitaminosis-D to hypocalcemia was also studied. Of 78 infants (51 boys) enrolled, 18 (23.1%) had hypocalcemia. Fifteen (19.2%) had hypocalcemia secondary to hypovitaminosis-D and 3 (3.8%) had hypomagnesemia. In infants aged less than 6 mo who were exclusively breastfed, 15 (41.67%) had hypocalcemia in comparison to other two age groups [2 (10.53%) in 6-12 mo age-group and 1 (4.35%) in 1-2 y age-group]. This association was statistically significant (p = 0.001).


Assuntos
Hipocalcemia/epidemiologia , Convulsões/epidemiologia , Feminino , Humanos , Hipocalcemia/complicações , Lactente , Recém-Nascido , Masculino , Prevalência , Estudos Prospectivos , Convulsões/complicações , Deficiência de Vitamina D
19.
Pol Merkur Lekarski ; 43(253): 26-31, 2017 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-28805198

RESUMO

Chronic hypocalcemia, irrespectively of its etiology, can lead to severe impairment of the left ventricular (LV) contractility manifesting as dilated cardiomyopathy, usually defined as hypocalcemic cardiomyopathy (hypocaCM). This rarely diagnosed type of heart failure (HF), can be completely reversible, when treated properly with calcium and vitamin D supplementation or, in some subjects, with human recombinant parathormone. A CASE REPORT: The authors present a case of a 60-year-old male admitted with advanced pulmonary congestion, recurrent pulmonary edema and pleural effusion. He was refractory to standard HF therapy. One year earlier, the patient was diagnosed with primary dilated cardiomyopathy with ejection fraction decreased to 25% and after coronary angiography, which revealed normal coronary arteries, he received implantable cardioverter-defibrillator (ICD). However, 36 years before, the patient underwent subtotal thyroidectomy, and at the moment presented with multiplicitous symptoms suggestive of profound hypocalcemia. Laboratory investigations confirmed hypocalcemia due to iatrogenic hypoparathyroidism. Improvement of LV function during supplementation with calcium and vitamin D was monitored by echocardiography using two-dimensional longitudinal strain. One should always consider reversible causes of HF, including hypocalcemia, especially when obvious consequences of chronic hypocalcemia as myopathy, depression or cataract are seen. Correct therapy can restore LV function and prevent unnecessary implantation of ICD.


Assuntos
Cardiomiopatia Dilatada/etiologia , Hipocalcemia/etiologia , Tireoidectomia/efeitos adversos , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/terapia , Desfibriladores Implantáveis , Humanos , Hipocalcemia/complicações , Hipocalcemia/tratamento farmacológico , Masculino , Pessoa de Meia-Idade
20.
Arq. bras. med. vet. zootec. (Online) ; 69(4): 955-961, jul.-ago. 2017. tab
Artigo em Português | LILACS, VETINDEX | ID: biblio-876719

RESUMO

O cruzamento com a raça Jersey vem sendo utilizado principalmente como alternativa para o aumento da concentração de sólidos do leite em rebanhos puros Holandês, sendo a capacidade de produção desses animais conhecida em diversos estudos. Entretanto, ainda existem limitadas informações sobre diversos fatores relevantes para a tomada de decisão e para o manejo de rebanhos cruzados, tais como resistência a doenças e facilidade de parto, sendo esta a motivação do presente trabalho, o qual objetivou avaliar a sanidade, a imunidade e a facilidade de parto de vacas mestiças Holandês x Jersey em relação a vacas puras Holandês. Foram analisados dados de dificuldade de parto, duração da gestação, retenção de placenta, indicadores sanguíneos para doenças metabólicas pós-parto (cetose e paresia puerperal hipocalcêmica) e de imunidade obtidos em vacas mestiças Holandês x Jersey e puras Holandês durante o período de um ano. O grupamento genético não afetou a facilidade de parto (P=0,4376), a retenção de placenta (P=0,7074) e a duração da gestação (P=0,2812). Vacas mestiças apresentaram maiores concentrações de gamaglobulinas (1,776 contra 1,456g/dL) e de proteína total (7,019 contra 6,525g/dL). Quanto à concentração de ß-hidroxibutirato (BHBA), ocorreu diferença somente no dia do parto, com valores mais altos para as vacas mestiças (0,580 contra 0,427mmol/L). Observou-se diferença entre grupamentos genéticos para concentração de cálcio iônico (P=0,082), com vacas mestiças apresentando concentração mais baixa (3,92 contra 4,3 mg/dL). Conclui-se que vacas mestiças apresentam melhor performance em indicadores de imunidade e pior nos indicadores de cetose e paresia puerperal hipocalcêmica no pós-parto em relação às puras Holandês. O cruzamento não aumenta o risco de distocia em vacas inseminadas com touros Holandês.(AU)


The crossbreed with the Jersey breed has been used mainly as an alternative to increasing the concentration of milk solids in Holstein herds, the production capacity of these animals having become the focus of several studies. However, there is still limited information on many relevant factors for decision-making and management of crossbreed herds, such as disease resistance and ease of calving, and this is the motivation for this work, which aimed to evaluate the health, immunity and calving difficulty in Holstein x Jersey crossbred cows compared to pure Holstein cows. Data from calving difficulty, retained placenta, gestation length, blood indicators for postpartum metabolic diseases (ketosis and hypocalcemic puerperal paresis) and immunity in a herd composed by crossbreeds and Holstein cows during one year was analyzed. The genetic groups did not affect ease of calving (P = 0.4376), retained placenta (P = 0.7074) and gestation length (P=0.2812). Crossbred cows had higher concentrations of gammaglobulins (1.776 versus 1.456g/dL) and total protein (7.019 versus 6.525g/dL). For the concentration of BHBA, differences occurred only at calving, with higher values for crossbred cows (0.580 versus 0.427mmol/L). Difference was observed between genetic groups for concentration of ionized calcium (P = 0.082), with crossbred cows presenting lower concentrations (3.92 versus 4.3mg/dL). In conclusion, crossbred cows have superior performance compared to Holstein cows for immunity indicators and lower for hypocalcemic puerperal paresis and ketosis indicators on the day of calving. Crossbred cows do not have an increased risk of dystocia in relation to pure Holstein cows when mated with Holstein bulls.(AU)


Assuntos
Animais , Feminino , Bovinos , Imunidade/genética , Imunoglobulinas , Cetose/veterinária , Paresia Puerperal/genética , Placenta Retida/veterinária , Período Pós-Parto/genética , Cruzamentos Genéticos
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