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Intussusception is a frequent and severe complication of Peutz–Jeghers syndrome (PJS). We herein present the case of a 3-year-old girl who experienced jejuno-jejunal intussusception due to PJS polyps. Despite no apparent family history of PJS, she had exhibited mucocutaneous pigmentation since infancy and recurrent abdominal pain and vomiting from 2 years of age. Segmental resection of the jejunum during emergency laparotomy for the intussusception revealed multiple hamartomatous polyps. Genetic analysis uncovered a germline nonsense mutation of c.247A>T in exon 1 of serine/threonine kinase 11 (STK11). Biannual follow-up surveillance for polyps by esophagogastroduodenoscopy, colonoscopy, and small bowel capsule endoscopy is ongoing. Reports describing the clinical and genetic features of extremely young PJS with intussusceptions are rare, although a literature review of STK11 germline mutations revealed several other pediatric cases of complicating intussusception at ≤ 8 years old. Considering the recent advances in surveillance and treatment options for the small bowel, earlier management of symptomatic children with PJS may be warranted to avoid surgical emergency. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to measure the population norms for the Japanese versions of preference-based measures (EQ-5D-3L, EQ-5D-5L, and SF-6D). We also considered the relations between QOL score in the general population and socio-demographic factors.Methods: A total of 1143 adult respondents (aged ≥ 20 years) were randomly sampled from across Japan using data from the Basic Resident Register. The health status of each respondent was measured using the EQ-5D-3L, EQ-5D-5L, and SF-6D, and responses regarding socio-demographic data as well as subjective diseases and symptoms were obtained. The responses were converted to a QOL score using Japanese value sets.Results: The percentages of respondents with full health scores were 68 % (EQ-5D-3L), 55 % (EQ-5D-5L), and 4 % (SF-6D). The QOL score measured using the SF-6D was significantly lower than those measured using either EQ-5D score. The QOL score was significantly lower among respondents over the age of 60 years, those who had a lower income, and those who had a shorter period of education. Intraclass correlation coefficient showed a poor agreement between the EQ-5D and SF-6D scores. The differences in QOL scores between respondents with and those without any disease were 0.064 for the EQ-5D-3L, 0.061 for the EQ-5D-5L, and 0.073 for the SF-6D; these differences are regarded as between-group minimal important differences in the general population.Conclusion: The Japanese population norms of three preference-based QOL measures were examined for the first time. Such information is useful for economic evaluations and research examining QOL score. [ABSTRACT FROM AUTHOR]

Seroma, a collection of serous fluid, is the most common problem after breast surgery. The aim of this study was to review the effect of mechanical closure of dead space on seroma formation after breast surgery. There are two mechanical methods for closure of the dead space beneath skin flaps: compression by external pressure, and fixation of the flaps with sutures. There is no evidence to suggest that the routine use of a pressure garment or compression dressing is beneficial. However, it appears that suture flap fixation does reduce seroma formation, simplify postoperative care and dressing, and thus allow early removal of drains and discharge. Drains are helpful for mechanical closure of dead space, but in breastconserving surgery this technique may preclude the use of a drain. However, previous studies have often been small in scale and poor in quality. Further studies should examine the effect of this technique on quality of life, cosmesis, and medical economics. [ABSTRACT FROM AUTHOR]

APH-1 is one of the four essential components of presenilin (PS)-γ-secretase complexes. There are three major isoforms of APH-1 in humans: APH-1aS, APH-1aL, and APH-1b. To gain insight into the functional role of APH-1 in γ-secretase complexes, we analyzed the relationship between the three APH-1 forms and characterized APH-1 mutants with a disrupted transmembrane GxxxG motif. We found that overexpression of APH-1aS or APH-1b in human cells significantly reduced the levels of endogenous APH-1aL protein. However, this displacement was not observed in PS-deficient cells, suggesting that it is dependent on PS. In transiently transfected cells, the levels of APH-1aL with G122D or L123D mutations were much lower than wild-type APH-1aL. Also, cycloheximide treatment of stable transfectants revealed that the mutant proteins are much less stable than the wild type. Furthermore, coimmunoprecipitation analysis showed that wild-type but not the mutant APH-1aL is incorporated into PS1 complexes, displacing endogenous APH-1aS. These results collectively indicate that the three forms of APH-1 can replace each other in PS complexes and that the transmembrane GxxxG region is essential for the stability of the APH-1 protein as well as the assembly of PS complexes. [ABSTRACT FROM AUTHOR]

Seroma is the most common complication of mastectomy. The aim of this systematic review is to clarify the pathophysiology of seroma. A computer-assisted MEDLINE search was conducted, and additional references were found in the bibliographies of these articles. The reference terms “breast cancer”, “mastectomy”, “seroma”, “lymphocele” and “lymphocyst” were used as both keyword and subject terms. The search was limited to studies published in English. The definition of seroma was highly variable across studies, but was most commonly a seroma large enough to be noticed by the patient or medical staff and affecting the patient’s satisfaction in the immediate or acute postoperative period. So far, only limited data are available on the severity of seroma. With respect to the pathophysiology of seroma, the data indicated that several anatomical factors, especially dead space, likely contribute to seroma formation. However, it was obscure whether seroma was due to lymph-like fluid or exudate. There is considerable variability in the way seroma is defined across studies, and its pathophysiology remains uncertain. [ABSTRACT FROM AUTHOR]

A rare splenic dermoid cyst in an 11-year-old girl is reported herein. The patient was referred to us with the chief complaint of acute-onset abdominal pain. The lesion was demonstrated by ultrasonography, computed tomography, and magnetic resonance imaging to be a cystic lesion containing serous fluid. A splenectomy was performed. Both histopathological and immunohistochemical findings demonstrated the cyst to be a dermoid cyst of the spleen. To avoid the risk of infection following splenectomy, polyvalent pneumococcus vaccine was administered. The patient recovered uneventfully. We performed immunohistochemical studies with cytokeratin and electron microscopy to determine the origin of the cyst. [ABSTRACT FROM AUTHOR]