Introduction Intestinal musculature defects leading to intestinal obstruction and perforation in children are rare and poorly understood. Case Presentation Our case is of a 3-day-old term male infant who was brought to the emergency department with symptoms of bilious emesis and poor feeding, and not having passed meconium. Pre-natal assessment and antenatal assessments did not raise any concerns for serology abnormalities or dysmorphic features, and he had good APGAR scores. The patient had a patent anus with abdominal distension. Initially, a plain abdominal X-ray was suspicious for Hirschsprung’s disease due to narrowing of the terminal descending colon. On day 7 of life, he developed spontaneous bowel perforation. A right hemicolectomy was performed on the same day, and subsequent gross pathological assessment demonstrated a focal muscularis propria defect. Histological examination confirmed the presence of ganglion cells, ruling out Hirschsprung’s disease. Immunohistochemical stains confirmed the absence of muscularis mucosa in small foci, which lead to a diagnosis of segmental absence of intestinal musculature (SAIM). While a repeat laparotomy was required shortly after due to complications, he is now feeding well and gaining weight appropriately, Conclusion Segmental absence of intestinal musculature should be included in the differential diagnosis of newborns with symptoms of functional intestinal obstruction in whom Hirschsprung's disease has been ruled out.
OBJECTIVES & METHODS: CINtec PLUS and cobas HPV tests were compared for triaging patients referred to colposcopy with a history of LSIL cytology in a 2-year prospective study. Cervical specimens were tested once at enrollment, and test positivity rates determined. Test performance was ascertained with cervical intraepithelial neoplasia grade 2 or worse (CIN2+) and CIN3 or worse (CIN3+) serving as clinical endpoints. RESULTS: In all ages, (19–76 years, n= 598), 44.3% tested CINtec PLUS positive vs. 55.4% HPV positive (p< 0.001). To detect CIN2+ (n= 99), CINtec PLUS was 81.8% sensitive vs. 93.9% for HPV testing (p= 0.009); genotype 16/18-specific sensitivity was 46.5%. Specificity was 52.9% vs. 36.6%, respectively (p< 0.001). In all ages, to detect CIN3+ (n= 44), sensitivity was 93.2% for both tests; genotype 16/18-specific sensitivity was 52.3%. Specificity was 48.4% for CINtec PLUS vs. 31.1% for HPV testing (p< 0.001). In patients < 30 years, CINtec was 91.7% sensitive vs 95.8% for HPV testing (p= 0.549). CONCLUSIONS: CINtec PLUS or cobas HPV test could serve as a predictor of CIN3+ with high sensitivity in patients referred to colposcopy with a history of LSIL regardless of age while significantly reducing the number of LSIL referral patients requiring further investigations and follow-up in colposcopy clinics.
Objective and methods: CINtec PLUS and cobas HPV tests were assessed for triaging women referred to colposcopy with a history of LSIL cytology. Both tests were performed at baseline using ThinPrep cervical specimens and biopsy confirmed cervical intraepithelial neoplasia grade 2 or worse (CIN2+) served as the clinical endpoint. Results: In all ages, (19-76 years, n = 600), 44.3% (266/600) tested CINtec PLUS positive vs. 55.2% (331/600) HPV positive (p = 0.000). Based on 224 having biopsies, sensitivity to detect CIN2+ (n = 54) was 81.5% (44/54) for CINtec PLUS vs. 94.4% (51/54) for HPV testing (p = 0.039); specificities were, 52.4% (89/170) vs. 44.1% (75/170), respectively (p = 0.129). In women >= 30 years (n = 386), 41.2% (159/386) tested CINtec PLUS positive vs. 50.8% (196/386) HPV positive (p = 0.008). Based on 135 having biopsies, sensitivity to detect CIN2+ (n = 24) was 95.8% (23/24) for both CINtec PLUS and HPV tests; specificities were, 55.0% (61/111) vs. 50.5% (56/111), respectively (p = 0.503). Conclusions: For women referred to colposcopy with a history of LSIL cytology, CINtec PLUS or cobas HPV test could serve as a predictor of CIN2+ with high sensitivity, particularly in women >= 30 years. Either test can significantly reduce the number of women requiring further investigations and follow up in colposcopy clinics.
Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which defects in alveolar macrophage maturation or function lead to the accumulation of proteinaceous surfactant in alveolar space, resulting in impaired gas exchange and hypoxemia. PAP is categorized into three types: hereditary, autoimmune, and secondary. We report a case of secondary PAP in a 47-year-old man, whose risk factors include occupational exposure to inhaled toxins, especially aluminum dust, the use of anabolic steroids, and alcohol abuse, which in mice leads to alveolar macrophage dysfunction through a zinc-dependent mechanism that inhibits granulocyte macrophage-colony stimulating factor (GM-CSF) receptor signalling. Although the rarity and vague clinical presentation of PAP can pose diagnostic challenges, clinician awareness of PAP risk factors may facilitate the diagnostic process and lead to more prompt treatment.
Gastrointestinal stromal tumors (GIST) are the most common mesenchymal lesions of the gastrointestinal tract. Many are treated surgically with or without the use of adjuvant tyrosine kinase inhibitors. Metastases to lymph nodes are infrequent. In this article, we present a case of a perigastric nodule presenting 3 years postsurgical treatment for biopsy-proven GIST, clinically suspicious for a recurrent/metastatic GIST. The patient had also received adjuvant tyrosine kinase inhibitor therapy. Microscopic sections from the perigastric lesion showed a spindle cell nodule felt initially to represent a GIST with posttherapeutic changes. Together with morphology, immunohistochemical workup supported the myofibroblastic origin of the spindle cells, consistent with a reactive nodular fibrous pseudotumor, and definitively excluded metastatic GIST. This case highlights an important diagnostic pitfall and is the first known case of a GIST preceding a reactive nodular fibrous pseudotumor.