Single-cell analysis of endometriosis reveals a coordinated transcriptional programme driving immunotolerance and angiogenesis across eutopic and ectopic tissues.

Endometriosis is characterized by the growth of endometrial-like tissue outside the uterus. It affects many women during their reproductive age, causing years of pelvic pain and potential infertility. Its pathophysiology remains largely unknown, which limits early diagnosis and treatment. We characterized peritoneal and ovarian lesions at single-cell transcriptome resolution and compared them to matched eutopic endometrium, unaffected endometrium and organoids derived from these tissues, generating data on over 122,000 cells across 14 individuals. We spatially localized many of the cell types using imaging mass cytometry. We identify a perivascular mural cell specific to the peritoneal lesions, with dual roles in angiogenesis promotion and immune cell trafficking. We define an immunotolerant peritoneal niche, fundamental differences in eutopic endometrium and between lesion microenvironments and an unreported progenitor-like epithelial cell subpopulation. Altogether, this study provides a holistic view of the endometriosis microenvironment that represents a comprehensive cell atlas of the disease in individuals undergoing hormonal treatment, providing essential information for future therapeutics and diagnostics.

Nasopharyngeal glial heterotopia with delayed postoperative meningitis.

A male infant, who underwent radical resection of a large glial heterotopia at the nasopharynx at 8 days, developed delayed postoperative bacterial meningitis at 9 months. Neuroradiological examination clearly demonstrated that meningitis had occurred because of the intracranial and extracranial connections, which were scarcely seen in the perioperative period. A transsphenoidal extension of hypothalamic hamartoma is possible because the connection started from the right optic nerve, running through the transsphenoidal canal in the sphenoid bone and terminating at the recurrent mass in the nasopharyngeal region.

An ectopic adreocortical adenoma of the renal sinus: a case report and literature review.

BACKGROUND: Ectopic adrenal tumors are very rare, especially in the renal sinus in adults. An unusual case of ectopic adrenal cortical adenoma in the right renal sinus is reported here. CASE PRESENTATION: This patient was a 37-year-old woman. She was admitted to our hospital for hypertension and bilateral limb weakness. Computed tomography (CT) revealed a mass in right renal sinus. It was initially considered a tumor of the renal pelvis. Further computed tomographic angiography (CTA) showed the mass to be located outside the renal pelvis. After adequate preoperative preparation (blood pressure control and serum potassium supplement), the patient underwent laparoscopic resection of retroperitoneal tumor. During the procedure, a soft tissue tumor 3.4*3.0 cm(2) in size with a golden color was found in the right renal sinus. The final immunohistochemistry examination showed an ectopic adreocortical adenoma. CONCLUSION: Ectopic adrenal tumors are rare in the renal sinus and difficult to diagnose and treat. Large and functional tumors should be treated with complete resection. The procedure is sometimes difficult for tumors located deep in the renal sinus. The decision to perform an open or minimally invasive surgery should be made according to the surgeon's experience.

A Case of Subclinical Hypothyroidism with Lingual and Right Pretracheal Ectopic Thyroid.

Ectopic thyroid tissue is most commonly located in a single location, this being the lingual area. Presentation with two ectopic thyroid foci is quite unusual. A girl patient aged 7 years who presented with complaints of two masses in the right anterior neck and submandibular area is reported. Her growth pattern and development were normal. The masses were detected to be dual ectopic thyroid glands by ultrasonography, computed tomography and 99m-technetium pertechnetate thyroid scan. The patient also had subclinical hypothyroidism. She was treated with oral levothyroxine and the masses slightly decreased in size. The repeated thyroid function tests were within the normal limits. Thyroid function tests and imaging studies need to be conducted in all patients with anterior neck masses.

A case of primary hyperparathyroidism due to ectopic parathyroid adenoma in the thymus, accompanied with vitamin D deficiency.

INTRODUCTION: Primary hyperparathyroidism (PHPT) caused by ectopic parathyroid adenoma (EPA) is not rare, whereas the concurrence of PHPT and vitamin D deficiency (VDD) in youth is uncommon. We reported a case of PHPT with EPA in the thymus, accompanied by a very low level of 25-hydroxyvitamin D. CASE REPORT: A 20-year-old man suffered from bilateral hip fractures under slight force or no force. Biochemical findings were consistent with PHPT and VDD. Examination results showed severe osteoporosis; both technetium-99m-sestamibi scintigraphy and computed tomography showed an abnormal nodule in the mediastinum, which was resected with a thoracoscope and confirmed pathologically as an EPA in the thymus. Hypocalcemia due to hungry bone syndrome (HBS) occurred after surgery and was resolved quickly with large-dose calcium and alfacalcidol supplementation. DISCUSSION: PHPT is usually a sporadic disease, and VDD is unfortunately a common global problem. Negative family history and no concomitant illness seemed to rule out familiar hyperparathyroidism. VDD with no gastrointestinal symptom and nutritional anemia was caused by long-term inadequate sun exposure before the first fracture and a 2-year absence of sun exposure due to immobilization. Both PHPT and VDD contributed to severe osteoporosis, which could be exacerbated by not attaining his peak bone mass and by immobilization because of a fragile fracture with delayed healing. Large parathyroid adenoma, VDD, overt bone disease, and PTH resistance in the patient were related to postoperative hungry bone syndrome. CONCLUSION: Any fracture in young adults that has not healed within 3 months should alert physicians to search for some factors or underlying diseases.

A polypoid gastric heterotopia of jejunum diagnosed by capsule endoscopy.

A 36-year-old lady presented with symptoms of intermittent small bowel obstruction caused by a polyp in the jejunum. CT scan and small bowel enema failed to demonstrate this polyp, and required a small bowel capsule endoscopy to finally reach a diagnosis. The objective of this report is to highlight the role of capsule endoscopy as a diagnostic tool in the small bowel pathology and to report a case of a polypoid gastric heterotopia of jejunum.

Successful use of cinacalcet HCl in a patient with end-stage renal failure and refractory secondary hyperparathyroidism due to parathyromatosis.

We present the case of a 65-year-old male on long-term dialysis for end-stage renal failure, who developed persistent secondary hyperparathyroidism after subtotal parathyroidectomy, which proved refractory to treatment. Parathyromatosis, a rare cause of recurrent hyperparathyroidism, which may develop when tissue seeded into the neck during subtotal or total parathyroidectomy becomes hyperfunctioning [Maxwell and Winearls 1997], was diagnosed. The patient had excessively high levels of circulating parathyroid hormone (PTH), elevated serum calcium and deteriorating cardiovascular status. Repeated surgery and treatment with high-dose vitamin D failed to provide a sustained decrease in serum PTH levels. Administration of cinacalcet HCl, a second generation calcimimetic, at doses of 30 - 180 mg/day provided a gradual and sustained suppression of PTH (> 1,700 - 344 ng/l) without increasing the calcium-phosphate product.

Familial occurrence of congenital hypothyroidism due to lingual thyroid gland.

Two sisters who presented with midline neck masses proved to be biochemically hypothyroid. Thyroid scintigraphy supplemented with perchlorate discharge testing showed lingual thyroid glands and ruled out the expected autosomal recessive organification defect. The related literature is reviewed.

Secondary hyperparathyroidism complicated by parathyromatosis.

Secondary hyperparathyroidism is a common complication of chronic renal disease. Clinical signs and symptoms tend to be severe and often are not controlled with medical measures. When medical therapy fails, parathyroidectomy becomes necessary. Recurrent hyperparathyroidism is not uncommon following surgery. One cause of surgical failure is parathyromatosis, which has been described as multiple nodules of hyperfunctioning parathyroid tissue scattered throughout the lower neck, superior mediastinum, or the arm if autotransplantation has been performed. Five cases of parathyromatosis in patients with chronic renal failure were identified. Clinical characteristics, course, and prognosis of the patients are reported. All patients had evidence of renal osteodystrophy and complained of severe pruritus and bone and/or joint pain. Three of the five patients had evidence of soft tissue calcification, two complained of muscle weakness, two had multiple fractures, and two eventually died of complications resulting from parathyromatosis. In four of five cases, surgical and medical management were ineffective. The patients described illustrate the severe morbidity and mortality associated with the parathyromatosis in the setting of end-stage renal disease. The pathogenesis remains controversial. Although primary prevention appears to be the most effective means of avoiding this complication, it is mandatory that meticulous care be taken during surgical manipulation. If such measures fail, calcium supplementation, calcitriol, and phosphate restriction may be tried.

[Gastrointestinal hemorrhage secondary to heterotopic jejunal pancreas]. / Hemorragia digestiva secundaria a páncreas heterotópico yeyunal.

A case of heterotopic pancreas located in the small intestine is herewith presented. The 19-years male patient had been admitted three times since 1991 for an anemic syndrome secondary to melena. The origin of the hemorrhage was not determined with the studies performed (intestinal transit, opaque enema, esophagogastroscopy, colonoscopy and gammagraphy with technetium 99). On the last admission a vascular lesion low flow was observed on arteriography of the upper mesenteric artery on the mesenteric edge of the proximal jejunum. Following laparotomy a small tumor was found in the jejunum and 5 cm of the intestine including the tumor was resected. The anatomic pathologic results demonstrated a heterotopic pancreas.

[Intussusception in children and adults]. / Darminvaginatie bij het kind en de volwassene.

The authors describe several cases of intussusception in children and one in an adult, paying attention to the underlying pathology, also in children. This must be kept in mind at the radiological examination (so called "leading points") and at the operation. Different causes are Meckel's diverticulum, ectopic pancreatic tissue, tumours. Air insufflation (= chinese method) could be safer and in case of perforation it would be less dangerous. Surgery shall be undertaken in late diagnosis, difficult or impossible reductions by enema and signs of perforation or peritonitis.

Heterotopic gastric and pancreatic tissue in large bowel.

Heterotopic gastric and pancreatic tissues rarely involves large bowel. We report the case of a 30-yr-old man who presented with lower gastrointestinal bleeding. The barium enema showed an ulcerated mass lesion at the splenic flexure. Colonoscopy revealed a polypoid ulcerated lesion at the splenic flexure. The resected specimen, on histological examination, showed a polypoid lesion lined by gastric mucosa. The base of the polyp also showed ectopic pancreatic tissue. The patient recovered completely after surgery.