An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature

SUMMARY Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus are the most common underlying mechanisms associated with pseudohypoparathyroidism. Biochemical and molecular analysis stratify pseudohypoparathyroidism into types 1A, 1B, 1C, and 2. We describe an unusual case of sporadic pseudohypoparathyroidism type 1B. A 34-year-old Caucasian woman was admitted to the emergency department, with persistent asthenia, limb paresthesias, and tactile hyposensitivity. Her physical examination, previous personal and family histories were unsuspicious, except for mild, intermittent and self-limited complaints of paresthesia during her two pregnancies, but no detailed workup was done. No typical features of Albright hereditary osteodystrophy were observed. The initial laboratory investigation showed elevated parathyroid hormone level (311.2 pg/mL), hypocalcemia (albumin-corrected serum calcium 4.3 mg/dL), hypocalciuria, hyperphosphatemia, hypophosphaturia, and vitamin D deficiency. Combined calcium, vitamin D, and magnesium supplementation was commenced, with symptomatic and analytical improvement. Albeit resolution of vitamin D deficiency, the patient relapsed with mild and intermittent lower limb paresthesias. Pseudohypoparathyroidism was confirmed by molecular identification of the 3-kb STX16 deletion. The treatment was readjusted, and one year later, symptomatic remission was attained. Clinical and biochemical features, and their respective course, along with lack of distinctive features of Albright hereditary osteodystrophy pointed to pseudohypoparathyroidism type 1B. A careful follow-up is needed to avoid complications and recurrence. Once correction of hypocalcemia and hyperphosphatemia is achieved, with no reported complications and recurrence, a good prognosis is anticipated, comparable to the general population.

An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature.

Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus are the most common underlying mechanisms associated with pseudohypoparathyroidism. Biochemical and molecular analysis stratify pseudohypoparathyroidism into types 1A, 1B, 1C, and 2. We describe an unusual case of sporadic pseudohypoparathyroidism type 1B. A 34-year-old Caucasian woman was admitted to the emergency department, with persistent asthenia, limb paresthesias, and tactile hyposensitivity. Her physical examination, previous personal and family histories were unsuspicious, except for mild, intermittent and self-limited complaints of paresthesia during her two pregnancies, but no detailed workup was done. No typical features of Albright hereditary osteodystrophy were observed. The initial laboratory investigation showed elevated parathyroid hormone level (311.2 pg/mL), hypocalcemia (albumin-corrected serum calcium 4.3 mg/dL), hypocalciuria, hyperphosphatemia, hypophosphaturia, and vitamin D deficiency. Combined calcium, vitamin D, and magnesium supplementation was commenced, with symptomatic and analytical improvement. Albeit resolution of vitamin D deficiency, the patient relapsed with mild and intermittent lower limb paresthesias. Pseudohypoparathyroidism was confirmed by molecular identification of the 3-kb STX16 deletion. The treatment was readjusted, and one year later, symptomatic remission was attained. Clinical and biochemical features, and their respective course, along with lack of distinctive features of Albright hereditary osteodystrophy pointed to pseudohypoparathyroidism type 1B. A careful follow-up is needed to avoid complications and recurrence. Once correction of hypocalcemia and hyperphosphatemia is achieved, with no reported complications and recurrence, a good prognosis is anticipated, comparable to the general population.

Impact of overweight and obesity on pregnancy outcomes in women with gestational diabetes - results from a retrospective multicenter study

ABSTRACT Objective The aim of this study was to evaluate the impact of pre-pregnancy body mass index (BMI) on pregnancy outcomes in women with gestational diabetes (GD). Subjects and methods Retrospective multicenter study using data from the Portuguese National Register. We included women with GD with a singleton pregnancy. GD diagnosis was according to the International Association of the Diabetes and Pregnancy Study Group criteria. Women were divided into groups according to their pre-pregnancy BMI: < 18.5 kg/m2 (underweight), ≥ 18.5 and < 25.0 kg/m2 (normal weight), ≥ 25 and < 30 kg/m2 (overweight) and ≥ 30 kg/m2 (obese). Results We included 3,103 pregnant women with GD, 29.6% (n = 918) were overweight and 27.3% (n = 846) were obese. Compared to normal weight, the overweight and obese groups had a higher percentage of gestational hypertension (4.0% and 8.5% vs. 2.1%), cesarean delivery (32.8% and 41.3% vs. 27.9%), macrosomia (3.9% and 6.7% vs. 2.4%), and large for gestational age (LGA) newborns (8.3% and 13.5% vs. 6.0%). Obesity increased the risk of gestational hypertension (OR 4.5, p < 0.001), preeclampsia (OR 1.9, p = 0.034), cesarean delivery (OR 2.0, p < 0.001), macrosomia (OR 3.1, p < 0.001) and LGA (OR 2.3, p < 0.001). Conclusion In pregnant women with GD, pregnancy complications increase with pre-pregnancy BMI. In obese women, appropriate diet and counseling prior to gestation and more aggressive medical intervention during pregnancy are needed in order to prevent macrosomic and LGA newborns and to reduce maternal complications.

Impact of overweight and obesity on pregnancy outcomes in women with gestational diabetes - results from a retrospective multicenter study.

Objective The aim of this study was to evaluate the impact of pre-pregnancy body mass index (BMI) on pregnancy outcomes in women with gestational diabetes (GD). Subjects and methods Retrospective multicenter study using data from the Portuguese National Register. We included women with GD with a singleton pregnancy. GD diagnosis was according to the International Association of the Diabetes and Pregnancy Study Group criteria. Women were divided into groups according to their pre-pregnancy BMI: < 18.5 kg/m2 (underweight), ≥ 18.5 and < 25.0 kg/m2 (normal weight), ≥ 25 and < 30 kg/m2 (overweight) and ≥ 30 kg/m2 (obese). Results We included 3,103 pregnant women with GD, 29.6% (n = 918) were overweight and 27.3% (n = 846) were obese. Compared to normal weight, the overweight and obese groups had a higher percentage of gestational hypertension (4.0% and 8.5% vs. 2.1%), cesarean delivery (32.8% and 41.3% vs. 27.9%), macrosomia (3.9% and 6.7% vs. 2.4%), and large for gestational age (LGA) newborns (8.3% and 13.5% vs. 6.0%). Obesity increased the risk of gestational hypertension (OR 4.5, p < 0.001), preeclampsia (OR 1.9, p = 0.034), cesarean delivery (OR 2.0, p < 0.001), macrosomia (OR 3.1, p < 0.001) and LGA (OR 2.3, p < 0.001). Conclusion In pregnant women with GD, pregnancy complications increase with pre-pregnancy BMI. In obese women, appropriate diet and counseling prior to gestation and more aggressive medical intervention during pregnancy are needed in order to prevent macrosomic and LGA newborns and to reduce maternal complications.

Sociedade Portuguesa de Cuidados Intensivos guidelines for stress ulcer prophylaxis in the intensive care unit. / Diretrizes da Sociedade Portuguesa de Cuidados Intensivos para profilaxia da úlcera de estresse na unidade de terapia intensiva.

Critically ill patients are at risk of developing stress ulcers in the upper digestive tract. Agents that suppress gastric acid are commonly prescribed to reduce the incidence of clinically important stress ulcer-related gastrointestinal bleeding. However, the indiscriminate use of stress ulcer prophylaxis in all patients admitted to the intensive care unit is not warranted and can have potential adverse clinical effects and cost implications. The present guidelines from the Sociedade Portuguesa de Cuidados Intensivos summarizes the current evidence and gives six clinical statements and an algorithm aiming to provide a standardized prescribing policy for the use of stress ulcer prophylaxis in the intensive care unit.

O paciente crítico corre risco de desenvolver úlceras de estresse do trato gastrintestinal. Antiácidos e antiulcerosos de diferentes classes são frequentemente prescritos para reduzir a incidência de hemorragia gastrintestinal clinicamente significativa associada à úlcera de estresse. No entanto, o uso indiscriminado deste tipo de profilaxia em todos os pacientes admitidos a unidades de terapia intensiva não só não se justifica, como tem potenciais efeitos adversos e implicações de custo. As presentes diretrizes da Sociedade Portuguesa de Cuidados Intensivos resume a evidência atual e fornece seis afirmações clínicas e um algoritmo com o objetivo de fornecer uma política padronizada para prescrição de profilaxia da úlcera estresse em unidades de terapia intensiva.

Diretrizes da Sociedade Portuguesa de Cuidados Intensivos para profilaxia da úlcera de estresse na unidade de terapia intensiva / Sociedade Portuguesa de Cuidados Intensivos guidelines for stress ulcer prophylaxis in the intensive care unit

RESUMO O paciente crítico corre risco de desenvolver úlceras de estresse do trato gastrintestinal. Antiácidos e antiulcerosos de diferentes classes são frequentemente prescritos para reduzir a incidência de hemorragia gastrintestinal clinicamente significativa associada à úlcera de estresse. No entanto, o uso indiscriminado deste tipo de profilaxia em todos os pacientes admitidos a unidades de terapia intensiva não só não se justifica, como tem potenciais efeitos adversos e implicações de custo. As presentes diretrizes da Sociedade Portuguesa de Cuidados Intensivos resume a evidência atual e fornece seis afirmações clínicas e um algoritmo com o objetivo de fornecer uma política padronizada para prescrição de profilaxia da úlcera estresse em unidades de terapia intensiva.

ABSTRACT Critically ill patients are at risk of developing stress ulcers in the upper digestive tract. Agents that suppress gastric acid are commonly prescribed to reduce the incidence of clinically important stress ulcer-related gastrointestinal bleeding. However, the indiscriminate use of stress ulcer prophylaxis in all patients admitted to the intensive care unit is not warranted and can have potential adverse clinical effects and cost implications. The present guidelines from the Sociedade Portuguesa de Cuidados Intensivos summarizes the current evidence and gives six clinical statements and an algorithm aiming to provide a standardized prescribing policy for the use of stress ulcer prophylaxis in the intensive care unit.