Multiple endocrine adenomatosis type IIb. Diagnosis and treatment.

A 29-year-old man with a marfanoid habitus, peculiar mucosal neuromas of the lips and tongue, high arched palate, hyperplastic corneal nerves, and hypertension was found at operation to have medullary carcinoma of the thyroid, parathyroid hyperplasia, and pheochromocytoma. These symptoms and findings are characteristic of multiple endocrine adenomatosis (MEA IIb) syndromes.     

Multiple endocrine adenomatosis (Type I) and familial hyperparathyroidism.

Hyperparathyroidism is the commonest presenting feature in multiple endocrine adenomatosis Type I (MEA Type I), the other manifestations may be delayed for many years or appear only in relatives. A family now diagnosed as MEA Type I, who was previously thought, in 1965, to have familial hyperparathyroidism due to chief cell hyperplasia is now described. The importance is stressed of family surveillance and long-term follow-up in all cases of primary hyperparathyroidism. Those tests that are essential in the long-term surveillance of the patients and their first degree relatives are discussed.     

A case of multiple endocrine adenomatosis with primary amenorrhoea.

A well documented sporadic case of multiple endocrine adenomatosis (MEA) type I, with the pituitary tumour presenting as a prolactinoma, is described in a 28-year-old female. Primary amenorrhoea, resulting from hyperprolactinaemia, was the first symptom of the polyglandular neoplasia. A gastrinoma was removed from the head of the pancreas and latent hyperparathyroidism appeared to be present. Treatment with bromocriptine was poorly tolerated; neurosurgical intervention was refused by the patient. The possibility that a serum prolactin determination may be useful in detecting pituitary involvement in MEA deserves consideration.     

Difficulties in localization and treatment of insulinomas in type 1 multiple endocrine adenomatosis (MEA).

A 15 year old girl with a family history of type 1 multiple endocrine adenomatosis presented with reversible neurological disturbances, hypoglycaemia and hyperinsulinaemia. Initial radiology was normal, but portal venous sampling suggested an insulinoma in the tail of the pancreas which was removed with conservation of the spleen. Hypoglycaemia persisted despite high doses of diazoxide and intravenous dextrose. A second laparotomy revealed a pancreatic endocrine tumour and sub-total pancreatectomy was performed. Histology revealed islet cell microadenomatosis. Hypoglycaemia persisted despite treatment with somatostatin analogues and 40% intravenous dextrose was required to maintain normoglycaemia. A possible lesion near the splenic hilum on computed tomographic scan was reported as a splenunculus although further peripheral, hepatic and portal venous sampling suggested hepatic or systemic lesions. A positron emission scan and selective visceral angiography suggested a lesion in the left upper quadrant. Acute lactic acidosis, rhabdomyolysis and renal failure supervened. Post mortem revealed the putative ''splenunculus'' to be a residual insulinoma, whilst the splenic vein was thrombosed, accounting in part for discrepant venous sampling data. Hyperinsulinaemia in type 1 multiple endocrine adenomatosis may require more aggressive surgical and hormonal intervention than when dealing with solitary insulinomas. Insulinomas may mimic developmental abnormalities on computed tomographic scanning.     

A novel CASR gene mutation in an octogenarian with asymptomatic hypercalcaemia.

An increasing number of patients are diagnosed with primary hyperparathyroidism after having hypercalcaemia detected incidentally during routine biochemical screening. Many are asymptomatic at the time of diagnosis. An 80-year-old woman was found to have asymptomatic hypercalcaemia. Initial investigations suggested a diagnosis of primary hyperparathyroidism. Subsequent investigations revealed that, in fact, she had familial hypocalciuric hypercalcaemia. Direct DNA sequencing of the calcium-sensing receptor (CASR) gene confirmed that the patient was heterozygous for c.2501delC, a novel frame shift mutation predicted to cause loss of function of the CASR gene. Several other family members were subsequently found to carry the same mutation. Suspected cases of hypocalciuric hypercalcaemia should be confirmed by detection of mutations within the CASR gene. Establishing the correct diagnosis will enable the patient and family members to avoid unnecessary investigations or operations.     

Multiple endocrine neoplasia type 2B. A case report and review of the syndrome

This paper presents a case of the very rare multiple endocrine neoplasia Type 2B syndrome. It highlights that because of the presence of superficial neuromas in this condition, there is the possibility for early diagnosis. Recent knowledge of the molecular genetics of this syndrome and the ability to screen family members is also stressed since early thyroidectomy is now recommended to prevent the development of thyroid carcinoma which is the main determinant of prognosis.     

Effects of electro-acupuncture on somatostatin and pancreatic polypeptide in ischemic cerebrovascular diseases.

The levels of somatostatin (SS) in CSF and blood and pancreatic polypeptide (PP) in plasma were measured by radioimmunoassay in 64 patients with acute ischemic cerebrovascular diseases (ICVD), randomly divided into two groups: group 1 (n = 31, both electro-acupuncture and routine treatments given) and group 2 (n = 33, routine treatment) and 26 non-ICVD patients were used as controls. The points of electro-acupuncture were Quchi (LI 12), Waiguan (SJ 5) and Huantiao (GB 30) and Zusanli (St 36). After a course of treatment, the SS levels in plasma and CSF were significantly increased in the patients of group 1 with good result and their plasma PP level had no significant change. In the patients with poor result, however, the PP level was significantly decreased. The results suggested that electro-acupuncture might play an active role in alleviating the SS metabolic disturbance in CNS of ICVD patients.     

2型糖尿病患者t-PA、PAI-1水平及胰激肽原酶治疗后的变化

目的测定2型糖尿病患者纤溶酶原激活物(t-PA)、纤溶酶原激活抑制物-1(PAI-1)水平,并观察胰激肽原酶治疗后的变化。方法选取2型糖尿病患者88例,分为无血管并发症组和有血管并发症组,另设正常对照组,测量身高、体质量、血压、血糖、血脂等指标,用酶联免疫吸附双抗体夹心法（ELISA）测定胰激肽原酶治疗前后血浆t-PA、PAI-1水平。结果两组糖尿病患者t-PA水平均低于正常对照组,PAI 1水平均高于正常对照组（P＜0.05或0.01）;有血管并发症组t PA水平低于无血管并发症组,PAI 1水平高于无血管并发症组（P均＜0.01）。t-PA与TG、LDL-C呈负相关（P＜0.01）,PAI-1与BMI、SBP、FBG、HbA1c、TG、LDL-c呈正相关（P＜0.01）,与HDL呈负相关（P＜0.01）。两组糖尿病患者用胰激肽原酶治疗后,PAI-1水平下降,t-PA水平升高。结论糖尿病患者血浆t-PA水平降低,PAI-1水平升高,尤其是伴有血管并发症者变化更明显,胰激肽原酶治疗后,可改善t-PA和PAI-1水平的异常变化。     

胰腺癌患者体内维生素E水平的改变

目的探讨维生素E(VitE)在胰腺癌患者体内改变及其作用机制。方法对不同胰腺病患者血清中VitE的浓度进行了比较分析。结果在胰腺病患者中,急性胰腺炎、慢性胰腺炎、胰腺癌患者血清中VitE的含量均显著低于正常对照组(P<0.05),胰腺癌组血清VitE显著低于急性胰腺炎、慢性胰腺炎组(P<0.001)。结论胰腺癌患者体内VitE量显著减少,提示胰腺癌变可能与体内氧化/抗氧化系统失衡有关。     

经鼻高流量湿化氧疗应用于重症Ⅰ型呼吸衰竭患者的临床研究

目的 分析高流量氧疗（high flow nasal cannulaoxygen therapy,HFNC）对重症Ⅰ型呼吸衰竭患者动脉血气、呼吸力学的影响。方法 将浙江省临海市第一人医院2020年1月至2021年1月收治的60例重症Ⅰ型呼吸衰竭患者,采用随机数字表法分为无创正压通气（noninvasive positive pressure ventilation,NPPV）组与HFNC组,每组各30例,分别给予NPPV、HFNC通气治疗,比较两组患者的动脉血气、呼吸力学指标、喂养及治疗情况。结果 ①两组pH值、动脉血二氧化碳分压（partial pressure of carbon dioxide in artery,PaCO2）组间、时点间、组间·时点间交互比较,差异均无统计学意义（P>0.05）,但HFNC组通气48h的动脉血氧分压（partial pressure of arterial oxygen,PaO2）、氧合指数（oxygenation index,OI）显著高于NPPV组（P<0.05）;②两组呼吸频率（respiratory rate,RR）、吸气末跨肺压（dynamic end-inspiratory transpulmonary pressure,PL,ei）、呼气末跨肺压（end-expiratory transpulmonary pressure,PL,ee）、驱动压（driving transpulmonary pressure,△PL）组间、时点间、组间·时点间交互比较,差异均无统计学意义（P>0.05）;③两组营养供给途径、重症监护室（intensive care unit,ICU）住院天数比较,差异无统计学意义（P>0.05）,但HFNC组腹胀发生率、吞咽障碍评分、口腔干燥程度评分显著低于NPPV组（P<0.05）,舒适度评分高于NPPV组（P<0.05）。结论 较NPPV,HFNC同样可改善重症Ⅰ型呼吸衰竭患者、呼吸力学指标水平,且HFNC对PaO2、OI的改善更显著。     

胰腺癌患者体内维生素E水平的改变

目的 探讨维生素E（VieE）在胰腺癌患者体内改变及其作用机制。方法 对不同胰腺病患者血清中VitE的浓度进行了比较分析。结果 在胰腺病患者中，急性胰腺炎、慢性胰腺炎、胰腺癌患者血清中VitE的含量均显著低于正常对照组（P＜0．05），胰腺癌组血清VitE显著低于急性胰腺炎、慢性胰腺炎组（P＜0．001）。结论 胰腺癌患者本内VitE量显著减少，提示胰腺癌变可能与体内氧化／抗氧化系统失衡有关。