Thyrotoxic periodic paralysis complicated by life-threatening acute hypercapnic respiratory failure in a Chinese male with painless thyroiditis.

CONTEXT: Thyrotoxic periodic paralysis (TPP) is a relatively common complication seen in Asian hyperthyroid patients. However, it is a rare occurrence to find a TPP case comprised of acute hypercapnic respiratory failure in patients with painless thyroiditis. PATIENT: A 29-year-old Chinese man presented with flaccid paralysis of all four limbs and he was brought to emergency room. Severe hypokalemia was found on admission. Although treatment had been initiated with potassium chloride supplementation, he went on to develop acute hypercapnic respiratory failure likely due to muscle fatigue. The patient was intubated for mechanical ventilatory support. Once his serum potassium levels were normalized, he was able to be weaned off ventilator support. Thyroid function tests showed elevated free thyroxine concentration and low thyroid-stimulating hormone concentration. He underwent a thyroid uptake scan with 131I which revealed decreased uptake rate of thyroid area. Based on the patient's clinical presentation and associated findings, we diagnosed him with TPP due to painless thyroiditis. We have reviewed TPP cases caused by painless thyroiditis and TPP cases associated with acute hypercapnic respiratory failure. CONCLUSION: It is important to note that potentially fatal complications such as acute hypercapnic respiratory failure might occur in acute attacks of TPP even in cases of TPP due to painless thyroiditis.

A spontaneous pregnancy and successful delivery in a Chinese female with Silver-Russell syndrome accompanied by gestational diabetes mellitus.

Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features including body asymmetry, relative macrocephaly, protruding forehead, and feeding difficulties. Previous descriptions of SRS focus on the management of specific issues in children. Herein, we present clinical and metabolic characteristics of an adult woman with SRS accompanied by gestational diabetes mellitus (GDM). Given the rare circumstances presented in our case, the emerging questions concerning the management of metabolic issues and fertility potential in adult SRS patient deserve more attention. Further, long-term follow up is essential to gain future insights into the natural history and optimal management in adulthood.

17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.

OBJECTIVE: 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in the cytochrome P450 17A1 (CYP17A1) gene. To better understand 17OHD, a rare disease, we described the clinical features and performed CYP17A1 gene analysis in 8 affected Chinese patients. METHODS: Patients with complete (7/8) or partial (1/8) 17OHD were derived from 6 families. The diagnosis was established according to their clinical, biochemical, hormonal, and radiological characteristics. Long-term follow-up of some patients was also designed. RESULTS: Patients with 17OHD suffered from varying degrees of hypokalemia and hypertension. Symptoms in female patients with partial 17OHD manifested as secondary amenorrhea, recurrent ovarian cysts, elevated estradiol level, and lower follicle-stimulating hormone and luteinizing hormone levels; primary amenorrhea was typical in patients with complete 17OHD. Adrenal masses and decreased bone mineral density (BMD) were discovered in 2 patients, respectively. During long-term follow-up, 4 patients developed low BMD, while 3 individuals underwent respiratory infections and recurrent urinary tract infections. CYP17A1 gene analysis revealed 7 different kinds of mutation, including 1 novel mutation, L266V. CONCLUSION: The clinical characteristics of partial 17OHD were different from those of complete 17OHD. Low BMD and infections were common in patients with 17OHD on long-term steroid treatment. Seven mutations were identified in the CYP17A1 gene, and 1 was novel. ABBREVIATIONS: ACTH = adrenocorticotropic hormone BMD = bone mineral density CAH = congenital adrenal hyperplasia CT = computed tomography DEXA = dual-energy X-ray absorptiometry DEX = dexamethasone 17OHD = 17α-hydroxylase/17, 20-lyase deficiency.

[Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus].

OBJECTIVE: To detect potential mutation in a pedigree affected with congenital nephrogenic diabetes insipidus (NDI). METHODS: Clinical data of a male patient affected with NDI was collected. Genomic DNA was extracted from peripheral blood samples from the patient and five family members. The whole coding region of the arginine vasopressin receptor 2 (AVPR2) gene was amplified by PCR and directly sequenced. RESULTS: The patient presented polyuria and polydipsia postnatally. Computerized tomography revealed bilateral hydronephrosis and hydroureter. The patient was responsive to hydrochlorothiazide but not to desmopressin. DNA analysis identified a hemizygous missence mutation c.295 T>C in exon 2 of the AVPR2 gene in the proband. His mother and grandmother were both heterozygous for the same mutation. CONCLUSION: The congenital NDI in the patient was probably due to mutation of the AVPR2 gene.

Clinical and genetic analysis for two Chinese siblings with 17α-hydroxylase/17,20-lyase deficiency.

AIMS: 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by impaired productions of gonadal steroids and cortisol, a subsequent elevation of adrenocorticotropic hormone, and accumulation of steroid precusors, which are shunted into the mineralocorticoid synthesis pathway. This disease is caused by mutations in the CYP17 gene. In this paper, we will describe the clinical features and genetic alterations on two female siblings of 46,XY and 46,XX from a family with complete 17OHD. METHODS: This study employed a spectrum of methods, including clinical, hormonal, radiological and genetic analyses. Blood samples from the siblings and their family members were taken for genetic tests. Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of the CYP17 gene were assessed by polymerase chain reaction and direct sequencing analysis. RESULTS: Genetic analysis of the CYP17 gene revealed a homozygous mutation in the two siblings. The mutation is a microdeletion, located in exon 8, Asp487-Ser488-Phe489 deletion. This deletion may be a prevalent CYP17 mutation in the Chinese population. CONCLUSION: Our study showed that a possible founder effect may account for the recurrent mutation Asp487-Ser488-Phe489 deletion in Chinese patients with 17OHD. And genetic testing could provide a useful method for a definitive diagnosis of 17OHD.

Design and Clinical Application Effect Analysis of a New Type of Oral Fluid Suction Device for Patients with Orotracheal Intubation.

Tracheal intubation is an important access to general anesthesia surgery or respiratory support in critically ill patients. Orotracheal intubation is the most common method of establishing artificial airways in clinical practice. Tracheal intubation and mechanically assisted breathing are among the important steps in the clinical rescue of critically ill patients. During tracheal intubation, it easily causes iatrogenic skin damage, unclear mouth, ulcer, and other oral mucosal complications due to the improper fixation method and excellent dental pads. Therefore, the purpose of this study was to design a novel oral suction device for patients with orotracheal intubation and explore its safety, convenience, and comfort in the clinical application of orotracheal intubation patients. From October 2016 to April 2017, a total of 232 patients with mechanical ventilation through orotracheal intubation in the Department of Surgery and Critical Care Medicine were selected by the convenience sampling method. According to the random number table method, 232 cases were divided into the experimental group and control group, with 116 cases in each group. The experimental group used a self-designed oral fluid suction device to fix the tracheal intubation; the control group used the traditional method, placing ordinary disposable tooth pads, and then using 3M tape to fix the tracheal intubation. The incidence of oral mucosa and lip pressure ulcers, patient comfort, and tracheal tube displacement were observed and compared between the two groups. The incidence of oral mucosa and lip pressure ulcers in the observation group using the self-designed oral fluid suction device to fix the tracheal intubation was significantly lower than that in the control group. At the same time, the comfort of the patients was significantly higher than that of the control group, the incidence of tracheal tube displacement was significantly lower than that of the control group, and the differences between the above indicators were statistically significant (P < 0.05). For patients with orotracheal intubation, using a new oral fluid suction device to fix the tracheal intubation can effectively prevent the displacement of the tracheal intubation, protect the oral mucosa and lips, and reduce the pain of the patient. At the same time, the oral fluid suction device designed in this study has low production cost, strong practicability, and is suitable for clinical promotion.

Tumor-induced osteomalacia with the culprit lesion located in the palm: a case report.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome. We herein report a rare case of TIO in a 58-year-old Chinese man who presented with a large lump in the right palm. Clinical, biochemical, and radiological assessments were performed. Laboratory examination showed severe hypophosphatemia, phosphaturia, an elevated serum alkaline phosphatase level, and an elevated serum fibroblast growth factor 23 (FGF-23) level. Dual-energy X-ray absorptiometry showed low bone mineral density. Magnetic resonance imaging revealed an irregular mass located in the right palm and abnormal findings in several metacarpal bones. During the operation, the surgeons found that the tumor had penetrated the surrounding muscles. The tumor had unique characteristics of local tissue invasion. The patient's symptoms fully resolved and his serum phosphorus level normalized, although his serum FGF-23 level remained slightly high in the postoperative phase. Our findings suggest that in some patients with TIO, the serum phosphorus level might return to the normal range despite a relatively high postoperative serum FGF-23 level. These patients should be kept under close observation and regularly surveyed for any evidence of a residual tumor.

Associated risk factors in the early stage of diabetic retinopathy.

BACKGROUND: To investigate the retinal capillary density (RCD) of the macula using optical coherence tomography angiography (OCT-A) in type 2 diabetic patients and to further determine the association with risk factors. METHODS: A total of 212 eyes from 212 subjects were recruited; subjects included diabetics with no retinopathy (NDR, n = 90 eyes), diabetics with mild retinopathy DR (MDR, n = 36 eyes), and healthy participants (Control, n = 86 eyes). All participants underwent OCT-A scanning. RCD was quantified by superficial and deep retinal capillary layers (SRCL and DRCL) from OCT-A images. RESULTS: RCD in SRCL and DRCL was lower in NDR (P < 0.001) as well as in MDR (P < 0.001) when compared with control eyes. Diabetic patients were subdivided according to individual risk factors, complications related to diabetes, and hyperglycemia. Diabetic patients showed lower RCD in both the SRCL and DRCL when compared with healthy controls. Diabetics with age > 55y, HbA1c > 7% had significantly reduced DRCL (P < 0.05) when compared with the other group of diabetics (age < 55y, HbA1c < 7%). Diabetics with a blood urea nitrogen (BUN) > 8.2 mmol/L had significantly reduced SRCL and DRCL when compared to the other group of diabetics. CONCLUSIONS: Risk factors including older age, higher level of HbA1c, LDL-C and BUN, were associated with lower RCDs found in type 2 diabetic patients with and without mild DR by OCT-A. The impairment of retinal capillary by OCT-A may play a key role in the early monitoring of management in diabetes.

Low-dose adefovir dipivoxil-induced hypophosphatemia osteomalacia in five chronic hepatitis B virus-infected patients. Is low-dose adefovir dipivoxil-induced nephrotoxicity completely reversible?

Adefovir dipivoxil (ADV) is one of the most important nucleostide analogues currently in use for the treatment of chronic hepatitis B virus (HBV) infection. Low-dose ADV-induced nephrotoxicity in most cases was reported to be reversible after the discontinuation of ADV or by decreasing the dose of ADV. In our study, we have 5 documented cases of low-dose ADV-induced hypophosphatemia osteomalacia with or without Fanconi syndrome which were diagnosed in our hospital between 2010 and 2017. Three patients were observed to have a full recovery after the discontinuation of ADV. Two patients had persistently elevated urine ß2-microglobulin levels and out of these two patients, one patient had persistent hypophosphatemia after the cessation of ADV. These cases illustrated that the use of low-dose ADV increased the risk of nephrotoxicity, and in some patients, low-dose ADV-induced nephrotoxicity was not completely reversible. Patients of East Asian origin, especially those with a low body mass index, were prone to a relatively higher risk of developing low-dose ADV-induced nephrotoxicity; therefore, it was worth paying attention to the side effects caused by low-dose ADV.

Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11ß-hydroxylase deficiency in a Chinese patient.

OBJECTIVE: To show mutational analysis for 11ß-hydroxylase deficiency (11ß-OHD). DESIGN: Case report. SETTING: A laboratory of endocrinology at a university hospital. PATIENT(S): One Chinese woman with 11ß-OHD referred to our clinic was observed in our study. INTERVENTION(S): Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of the CYP11B1 gene were assessed by polymerase chain reaction and then direct sequencing analysis. MAIN OUTCOME MEASURE(S): Molecular characterization of the CYP11B1 gene. RESULT(S): A novel missense mutation (p.R454C) in the CYP11B1 gene was identified in our patient. CONCLUSION(S): Our study identified one novel mutation in the CYP11B1 gene. The expanded mutation database should benefit patients in the diagnosis and treatment of 11ß-OHD.