Laparoscopic Appendectomy: A Safe and Definitive Solution for Suspected Appendicitis.

INTRODUCTION: Since conservative antibiotic treatment in uncomplicated appendicitis might not solve the clinical problem definitively, it has to compete with the results of today's laparoscopic appendectomy. METHODS: In a county hospital, accommodating also a pediatric department, all cases of appendectomy for suspected appendicitis over 15 years were analyzed retrospectively for the following items: beginning of symptoms, time from admission to surgery, surgical technique as "open," "laparoscopic" or "converted," if perforated at operation and histological confirmation of acute inflammation. Surgical morbidity was detected in distinct categories. To evaluate changes over time, 3 time periods of 5 years each were defined. RESULTS: Resulting in a total of 1,956 cases there were 731 in group I, 633 in group II and 592 in group III within the 3 time periods, respectively. The median age was 17 years. The percentage of perforations was 16.8%. Those patients had - with 47 compared to 27 h - a significantly prolonged time from the beginning of symptoms to admission (p = 0.0001). The proportion of laparoscopic surgery rose from 83.3 (group I) to 98.3% (group III; p = 0.0001). The median postoperative hospital stay diminished from 4 to 3 days in nonperforated (p = 0.0001) and from 8 to 7 days in perforated cases (p = 0.0009). Surgical morbidity was reduced from 4.1% in the first to 1.7% in the third observation period (p = 0.0144). There were no surgical site infections during the last 5 years. CONCLUSIONS: Timely laparoscopic appendectomy in case of suspected appendicitis can be offered with an extraordinary low morbidity. Taking into account the complete solution of the otherwise pending threat, compared to conservative antibiotic treatment, it is safe and definitive.

A Comparison of Familial and Sporadic Type 1 Diabetes Among Young Patients.

OBJECTIVE: To investigate natural course, treatment, and outcomes in familial versus sporadic type 1 diabetes. RESEARCH DESIGN AND METHODS: In a population-based study, we compared patients with onset of type 1 diabetes before the age of 20 years who had a first-degree relative with type 1 diabetes (familial diabetes) with patients with type 1 diabetes who had no first-degree relative with type 1 diabetes (sporadic diabetes) at diagnosis and over the first 10 treatment years, using multivariable regression and proportional hazards models. Patients were identified from the Diabetes Prospective Follow-up Registry (DPV) between 1995 and 2018. RESULTS: Of 57,371 patients with type 1 diabetes, 53,606 (93.4%) had sporadic diabetes and 3,765 (6.6%) had familial diabetes. Familial diabetes, compared with sporadic diabetes, was associated with younger age (median 7.9 vs. 9.7 years, P < 0.001), lower prevalence of ketoacidosis (11.9% vs. 20.4%, P < 0.001), and lower HbA1c levels (9.7% vs. 11.1%, P < 0.001) at onset and higher prevalence of associated autoimmune disease (16.7% vs. 13.6%, P < 0.001). Over 10 years, patients with familial diabetes, in comparison with sporadic diabetes, more often used insulin pumps (P < 0.001) and had a lower rate of severe hypoglycemia (12.97 vs. 14.44 per 100 patient-years, P < 0.001) but similar HbA1c levels (P ≥ 0.08) and ketoacidosis rates (1.85 vs. 2.06 per 100 patient-years, P = 0.11). In familial and sporadic diabetes, absence of ketoacidosis at onset predicted fewer events of severe hypoglycemia (hazard ratio [HR] 0.67, P < 0.001, and 0.91, P < 0.001, respectively) and of ketoacidosis (HR 0.64, P = 0.007, and 0.66, P < 0.001, respectively) after 10 years. CONCLUSIONS: Familial type 1 diabetes, compared with sporadic type 1 diabetes, is characterized by earlier disease manifestation and higher autoimmune comorbidity as well as less metabolic decompensation at onset, likely related to higher disease awareness in affected families, while the course of disease is similar. These findings may have implications for the generalizability of results of diabetes prevention trials from patients with familial type 1 diabetes to patients with sporadic type 1 diabetes.

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.

BACKGROUND: Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the α (SCNN1A), ß (SCNN1B) or γ (SCNN1G) subunit of the epithelial Na(+) channel (ENaC). While autosomal dominant mutation of the MR cause renal PHA1, autosomal recessive mutations of the ENaC lead to systemic PHA1. In the latter, affected children suffer from neonatal onset of multi-organ salt loss and often exhibit cystic fibrosis-like pulmonary symptoms. OBJECTIVE: We searched for underlying mutations in seven unrelated children with systemic PHA1, all offsprings of healthy consanguineous parents. METHODS AND RESULTS: Amplification of the SCNN1A gene and sequencing of all 13 coding exons unraveled mutations in all of our patients. We found five novel homozygous mutations (c.587_588insC in two patients, c.1342_1343insTACA, c.742delG, c.189C>A, c.1361-2A>G) and one known mutation (c.1474C>T) leading to truncation of the αENaC protein. All parents were asymptomatic heterozygous carriers of the respective mutations, confirming the autosomal recessive mode of inheritance. Five out of seven patients exhibited pulmonary symptoms in the neonatal period. CONCLUSION: The α subunit is essential for ENaC function and mutations truncating the pore-forming part of the protein leading to systemic PHA1. Based on current knowledge, the pulmonary phenotype cannot be satisfactorily predicted.