A 56-year-old man presented with a history of hypertension; clinically, the patient had primary aldosteronism (PA) and a 4-cm left adrenal tumor. The left adrenal glands, resected by adrenalectomy, ...also contained ectopic thyroid tissue (ETT). An immunohistochemical analysis of steroid-converting enzymes revealed an aldosterone-producing adenoma (APA). Among 19 previously reported cases of adrenal ETT, 4 had adrenal hormonal abnormalities, all of which were PA. This is the first case of adrenal ETT coexisting with APA, confirmed by steroid-converting enzyme expression. Further analyses using cumulative case data are required to clarify the correlation between adrenal ETT and APA.
Background
The leading pathology of biliary atresia (BA) is inflammatory and fibrous obstruction of extrahepatic bile duct, but the pathogenesis remains unclear. IL13 is a cytokine associated with ...allergies and inflammatory fibrosis, and periostin induces fibrogenesis by stimulation with IL13. We analyzed the involvement of IL13 and periostin in inflammatory fibrosis in the extrahepatic bile duct of BA patients.
Materials and methods
Surgically resected tissues from the hepatic hilar area of BA patients were immunostained with CD45,
α
-SMA, IL13 and periostin and statistically analyzed. Fibroblasts from the resected tissue were cultured with recombinant IL13, and periostin production was analyzed by quantitative polymerase chain reaction and Western blotting.
Results
IL13 was stained in 93% of large and micro bile ducts, and 92.1% matched with the CD45 location (
p
= 0.006) around the large bile ducts. Periostin staining correlated with the localization of IL13 and
α
SMA (
p
< 0.001) around the large bile ducts. Periostin mRNA and protein were upregulated by IL13 stimulation in cultured fibroblasts.
Conclusion
IL13 was associated with induced periostin expression by fibroblasts, playing a vital role in the pathogenesis of fibrogenesis around the extrahepatic bile duct in BA.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Intrahepatic bile duct (IHBD) stones are one of the most common late complications of Roux-en-Y hepaticojejunostomy for congenital biliary dilatation (CBD). We report the current treatment strategies ...for IHBD stones and their outcomes in our institute.
Between 1983 and 2021, 117 patients with CBD were surgically treated in our institute. Our treatment strategies included oral ursodeoxycholic acid (UDCA), double-balloon endoscopic retrograde cholangiography (DB-ERC), percutaneous cholangio-drainage (PTCD), and open surgery. A retrospective study was conducted using medical charts.
Postoperative IHBD stones were identified in 12 of 117 patients with CBD (10.2%). Five patients received UDCA, and small stones were successfully resolved in two cases. DB-ERC was performed eight times in five patients, but the endoscope could not reach the porta hepatis due to a long jejunal loop in two of five patients. One patient presented with severe acute pancreatitis induced by prolonged DB-ERC. PTCD was performed in three patients, two of whom finally underwent open surgery due to unsuccessful lithotomy. Open surgery was eventually performed in three patients. Lithotomy was performed in one patient; lithotomy with strictureplasty was performed in another patient. The other patient was diagnosed with intrahepatic cholelithiasis with adenocarcinoma. He underwent left lobectomy and died of carcinomatous peritonitis.
Oral UDCA may be effective for small stones. Although DB-ERC should be considered as a first-line interventional therapy for lithotomy, it may not be feasible due to a long jejunal loop, and pancreatitis may occur. Long-term follow-up and early detection and treatment for IHBD stones may yield a good prognosis.
We encountered a 27-year-old Japanese woman with sensorineural deafness progressing to motor and sensory neuropathy. At 16 years old, she had developed weakness in her lower extremities and hearing ...impairment, which gradually deteriorated. At 22 years old, combined audiological, electrophysiological, and radiological examination results were consistent with auditory neuropathy spectrum disorder (ANSD). Genetic analyses identified a previously reported missense variant in the ATP1A1 gene (NM_000701.8:c.1799C>G, p.Pro600Arg). Although sensorineural deafness has been reported as a clinical manifestation of ATP1A1-related disorders, our case suggested that ANSD may underlie the pathogenesis of deafness in ATP1A1-related disorders. This case report broadens the genotype-phenotype spectrum of ATP1A1-related disorders.
Purpose
We aimed to evaluate the effect of human mesenchymal stem cells (hMSCs) on congenital diaphragmatic hernia (CDH) by intra-amniotic injection in a rat CDH model.
Methods
Nitrofen (100 mg) was ...administered to pregnant rats at E9.5. hMSCs (1.0 × 10
6
) or PBS was injected into each amniotic cavity at E18, and fetuses were harvested at E21. The fetal lungs were classified into normal, CDH, and CDH-hMSCs groups. To determine the lung maturity, we assessed the alveolar histological structure by H&E and Weigert staining and the alveolar arteries by Elastica Van Gieson (EVG) staining. TTF-1, a marker of type II alveolar epithelial cells, was also evaluated by immunohistochemical staining and real-time reverse transcription polymerase chain reaction.
Results
The survival rate after intra-amniotic injection was 72.1%. The CDH-hMSCs group had significantly more alveoli and secondary septa than the CDH group (
p
< 0.05). The CDH-hMSCs group had larger air spaces and thinner alveolar walls than the CDH group (
p
< 0.05). The medial and adventitial thickness of the pulmonary artery in the CDH-hMSCs group were significantly better (
p
< 0.001), and there were significantly fewer TTF-1-positive cells than in the CDH group (
p
< 0.001).
Conclusion
These results suggest that intra-amniotic injection of hMSCs has therapeutic potential for CDH.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Anterior cutaneous nerve strangulation syndrome (ACNES) is a disorder in which the anterior cutaneous branch of the intercostal nerve is injured in the anterior sheath of the rectus abdominis muscle, ...causing pain at the outer edge of the rectus abdominis muscle. Moreover, it may also include pain arising from other cutaneous nerves throughout the abdominal wall. In this study, we report two atypical cases of ACNES treated surgically. In case 1, a 12-year-old girl complained of chronic abdominal wall pain in the right inguinal region. In case 2, a 15-year-old boy complained of left-sided abdominal pain. Conservative treatment was temporarily effective, and surgery was performed 8 months and 2 years and 4 months after the onset in cases 1 and 2, respectively. In case 1, the inguinal canal was opened and the ilioinguinal nerve was identified for neurectomy. In case 2, a preoperative trigger point injection with indigo carmine dye was used to identify and resect the iliohypogastric nerve behind the transversus abdominis tendon membrane. In both cases, symptoms resolved after surgery. Neurectomy may be effective in atypical ACNES patients who do not respond to conservative treatment, and a treatment strategy needs to be established.
Background
Pulmonary hypoplasia is an important cause of morbidity and mortality in infants with congenital diaphragmatic hernia (CDH). This study aimed to verify our hypothesis that the abnormal ...development of bronchial cartilage as well as alveolar immaturity, might play a central role in hypoplasia of the lung in human CDH.
Method
We retrospectively analyzed autopsied lungs from 10 CDH cases and compared with nine age‐matched controls to assess the bronchial cartilage and alveolar maturity using morphological techniques.
Result
Ki‐67 and thyroid transcription factor‐1 (TTF‐1) expression in the alveoli significantly increased in bilateral lungs with CDH. The shortest distance from the bronchial cartilage to the pleura was significantly shorter in ipsilateral (left) lungs with CDH, showing a positive correlation with the radial alveolar count (RAC). Regarding the small bronchial cartilages less than 20 000 μm2, the average cartilage area significantly decreased in left lungs with CDH, and tended to decrease in right lungs with CDH. In addition, cartilage around the bronchi less than 200 μm in diameter tended to be smaller in left lungs with CDH. In contrast, regarding the cartilage around the bronchi 200 to 400 μm in diameter, the ratio of the total cartilage area relative to the bronchial diameter tended to be higher in left lungs with CDH, although there was a large variation.
Conclusions
These opposite directional cartilage abnormalities around the distal and more proximal bronchi support our hypothesis that abnormal development of bronchial cartilage might play an important role in the hypoplastic lung in CDH.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Mesenchymal stem cells (MSCs) isolated from spinal ligaments with ectopic ossification have a propensity toward the osteogenic lineage. To explore epigenetic control of the osteogenic features of ...MSCs, we treated MSCs obtained from the spinal ligaments of ossification of yellow ligament (OYL) patients and non-OYL patients with the DNA methyltransferase inhibitor, 5-aza-2′-deoxycytidine (5AdC). We compared the non-OYL groups (untreated and treated with 5AdC) with the OYL groups (untreated and treated with 5AdC) by genome-wide microarray analysis. Next, we used methylated DNA immunoprecipitation combined with quantitative real-time PCR to assess gene methylation. Ninety-eight genes showed expression significantly increased by 5AdC treatment in MSCs from non-OYL patients but not from OYL patients. In contrast, only two genes, GDNF and WNT5A, showed significantly higher expression in OYL MSCs compared with non-OYL MSCs without 5AdC treatment. Both genes were hypermethylated in non-OYL MSCs but not in OYL MSCs. Small interfering RNA targeted to each gene decreased expression of the target gene and also several osteogenic genes. Both small interfering RNAs also suppressed the activity of alkaline phosphatase, a typical marker of osteogenesis. These results suggest that the osteogenic features of MSCs from OYL patients are promoted by unmethylated WNT5A and GDNF genes.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
A two-month-old boy, who was prenatally noted as having congenital heart defects and a right supradiaphragmatic mass, was diagnosed after birth as having double outlet right ventricle (DORV) with ...pulmonary atresia. The supradiaphragmatic mass was unlikely to be malignant on the basis of ultrasonographic findings and tumor markers, and it was initially planned that he undergoes elective surgery. Enhanced computed tomography at one month of age showed an inflow of an aberrant artery from the abdominal aorta into the mass and a prolapse of the right kidney and adrenal gland into the right thoracic cavity. He was diagnosed as having right pulmonary sequestration and right-sided late-presenting congenital diaphragmatic hernia (CDH). Lung surgery and CDH repair were to precede heart surgery because increased pulmonary blood flow and vascular bed development were essential for cardiovascular surgery for DORV. At two months of age, thoracoscopic resection for pulmonary sequestration and diaphragmatic plication were concomitantly performed without complications. There is a controversy over the indication and timing of surgery for pulmonary sequestration, and surgery for late-onset CDH is considered to be elective. The case accompanied by complex cardiac anomaly should be given special consideration, and early definitive surgery is a possible option.
Paragangliomas (PGL) are extremely rare tumors, especially in children. While minimally invasive surgical techniques are well established in adult patients, the evidence in children is extremely ...limited. PGL have a rich blood flow and are located around large vessels; thus, operative exposure and resection are often difficult due to proximity to major vascular structures including renal vessels, vena cava, and aorta. In particular, surgery for interaortocaval large PGL is extremely challenging. In this report, we presented a case of a child with hormonally active interaortocaval large PGL that was resected laparoscopically.
A 14-year-old girl was transferred to the emergency room due to acute chest pain and vomiting after falling from a vaulting box. At presentation, her blood pressure was 218/137 mmHg and enhanced computed tomography of her abdomen revealed a 6.5-cm hypervascular tumor with intratumoral hemorrhage in the interaortocaval area. The patient's plasma catecholamine and 24-h urinary catecholamine level were found to be elevated. 131I-MIBG scan showed increased uptake in the tumor. The definitive diagnosis of PGL was made and we conducted elective laparoscopic excision of the retroperitoneal tumor. Careful and meticulous dissection was needed to separate the tumor from the surrounding vessels and tissues using a sealing device. Intraoperative hypertension was controlled using phentolamine, and the surgeon closely communicated with the anesthesiologist intraoperatively. Complete resection of the tumor was achieved laparoscopically. Total blood loss was 175 mL and the operating time was 422 min. Six months later, she remained well with no evidence of recurrence.
The laparoscopic approach gave excellent exposure and observation of the tumor's relationship to surrounding structures. Our findings suggest that laparoscopic tumor removal for interaortocaval large PGL is a feasible and safe procedure in children with the improvement of laparoscopic surgical skills and devices.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
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