A 3-month-old male infant was transferred to our hospital due to bicytopenia. His bone marrow biopsy showed irregular bony trabeculae with cartilaginous core, which was consistent with osteopetrosis. In the genetic test, c.242del (p.Pro81Argfs*85) in TCIRG1 was found to be homozygotic, thus he was diagnosed with malignant infantile osteopetrosis. At 6 months of age, he received double-unit umbilical cord blood transplantation (UCBT) with the conditioning regimen including busulfan, cyclophosphamide, and rabbit anti-thymocyte globulin. Initially, single UCB was infused to the patient, but the post infusion viability of the UCB was unexpectedly low. Thus, another UCB was additionally infused. Cyclosporine and mycophenolate mofetil were used for graft-versus-host disease (GVHD) prophylaxis. Neutrophils and platelets were engrafted on day +13 and +33, respectively. With engraftment, he showed overall grade 4 acute GVHD involving the skin and gut, which was refractory to corticosteroids. Despite treating with low-dose weekly methotrexate (10 mg/m2) and oral beclomethasone, his symptoms persisted. After treating with ruxolitinib 2.5 mg/day for 2 weeks, and 5 mg/day thereafter, his diarrhea stopped in 2 weeks and his skin symptoms gradually improved over 3 months. The short tandem repeats showed 100% donor chimerism at 1 and 3 months after UCBT. Currently, 4 months after UCBT, he is 10 months old. The oral prednisolone has been tapered to 0.6 mg/kg/day, and the dose of ruxolitinib was decreased to 2.5 mg/day without recurrence of GVHD. We plan to taper off the immunosuppressive agents if his GVHD symptoms do not recur.

This study was conducted to investigate the effects of feeding different carbohydrate sources and garcinia cambogia extract (HCA) on body weight and lipid metabolism. Fifty 10-month-old male Sprague-Dawley rats weighting 635 +/- 6 g were randomly divided into 5 groups and fed different experimental diets for 4 weeks. The carbohydrate (CHO) sources of each group were cornstarch (control group, 100% of CHO), fructose (F group and FH group, 25% of CHO) and sucrose (S group and SH group, 25% of CHO). FH group and SH group were fed diets containing 1% (W/W) of HCA. Food intake, body weight gain, and calorie efficiency were not significantly different among the groups. Perirenal fat pad weight of FH group was significantly lower than F group, but epididymal fat pad weight was not different among the groups. Fasting glucose level were not significant among the groups. Plasma lipid profile of FH or SH group was slightly lower than F or S group, respectively. The degree of difference of plasma lipid level was greater between F and FH group than those of between S and SH group. In liver, total lipid, triglyceride and total cholesterol level were slightly higher in F group than S group, and tended to be lower in FH group than F group, but tended to be higher in SH group than S group. Liver citrate lyase activity were not significant among the groups. These results suggest that HCA is potential material for reduction of body weight and improvement of plasma lipid profiles. But, there was no difference between fructose intake with HCA and sucrose intake with HCA in reduction of body weight and lipid metabolism.
Adipose Tissue ; Animals ; Body Weight* ; Cholesterol ; Citric Acid ; Diet ; Eating ; Fasting ; Fructose ; Garcinia cambogia ; Glucose ; Humans ; Infant ; Lipid Metabolism* ; Liver ; Male ; Plasma ; Rats* ; Rats, Sprague-Dawley ; Starch ; Sucrose ; Triglycerides

This study was performed to investigate the effect of chlorella on cadmium (Cd) toxicity in Cd- administered rats. Sixty male Sprague-Dawley rats (14 week-old) were blocked into 6 groups. Cadmium chloride was given at levels of 0 or 325 mg (Cd: 0, 160 ppm), and chlorella powder at levels of 0, 3 and 5%. Cadmium was accumulated in blood and tissues (liver, kidney and small intestine) in the Cd-exposed groups, while the accumulation of Cd was decreased in the Cd-exposed chlorella groups. Fecal and urinary Cd excretions were remarkably increased in Cd-exposed chlorella groups. Thus, cadmium retention ratio and absorption rate were decreased in the Cd exposed chlorella groups. Urinary and serum creatinine, and creatinine clearance were not changed in experimental animals. In addition, metallothionein (MT) synthesis in tissues was increased by Cd administration. The Cd-exposed chlorella groups indicated lower MT concentration compared to the Cd-exposed groups. Moreover, glomerular filtration rate (GFR) was not changed by dietary chlorella and Cd administration. According to the results above, this study could suggest that Cd toxicity can be alleviated by increasing Cd excretion through feces. Therefore, when exposed to Cd, chlorella is an appropriate source which counteracts heavy metal poisoning, to decrease the damage of tissues by decreasing cadmium absorption.
Absorption ; Animals ; Cadmium ; Cadmium Chloride ; Chlorella ; Creatinine ; Feces ; Glomerular Filtration Rate ; Humans ; Kidney ; Male ; Metallothionein ; Metals, Heavy ; Poisoning ; Rats ; Rats, Sprague-Dawley ; Retention (Psychology)

Metatropic dysplasia is a rare spondylo epi metaphyseal dysplasia characterized by progressive kyphoscoliosis, short limbs with relatively large hands and feet and limited of motion and enlargement of the large joints. It is diagnosed based on the characteristic clinical and radiological features. Even though benign cases of this disease are frequently reported, metatropic dysplasia can often have a fatal outcome. We describe a sporadic case of the well-delineated lethal metatropic dysplasia.
Dwarfism ; Extremities ; Fatal Outcome ; Foot ; Hand ; Humans ; Infant, Newborn ; Joints ; Osteochondrodysplasias

PURPOSE: Any battery impacted in the esophagus must be removed urgently because of the possibility of serious complications such as perforation, fistula, and mediastinitis. The use of endoscopic procedures was compared to find the most rapid, effective, and safe method to remove disk batteries. METHODS: The cases of 24 children (9 males, mean age, 1.5 years) that had accidentally ingested disk batteries were reviewed. The patients had visited the Department of Pediatrics, Kyungpook National University Hospital from July 1997 to June 2007 for the removal of disk batteries. Endoscopic removal was attempted using a retrieval net or a magnetic extractor with a balloon (condom). The procedure times for removing the ingested battery were compared. RESULTS: Children that ingested batteries with a larger diameter (20 mm) had a greater chance to have esophageal impaction with serious injury, such as esophageal mucosal necrosis or ulcers, as compared to the ingestion of smaller diameter batteries (10 mm) (p<0.01). Endoscopic removal of disk batteries was attempted either using a retrieval net in 10 children or by using a magnetic extractor with a balloon in 6 children. Endoscopic removal using a retrieval net was more effective (mean procedure time: 1.5 min) as compared to using a magnetic extractor with a balloon (mean procedure time: 3.3 min) (p<0.05). CONCLUSION: Both procedures, either using a retrieval net or a magnetic extractor with a balloon were effective in removing ingested disk batteries. Based on our experience, an endoscopic procedure using a retrieval net was a more effective method for foreign body removal.
Child* ; Eating ; Endoscopy ; Esophagus ; Fistula ; Foreign Bodies ; Gyeongsangbuk-do ; Humans ; Male ; Mediastinitis ; Necrosis ; Pediatrics ; Ulcer

PURPOSE: Any battery impacted in the esophagus must be removed urgently because of the possibility of serious complications such as perforation, fistula, and mediastinitis. The use of endoscopic procedures was compared to find the most rapid, effective, and safe method to remove disk batteries. METHODS: The cases of 24 children (9 males, mean age, 1.5 years) that had accidentally ingested disk batteries were reviewed. The patients had visited the Department of Pediatrics, Kyungpook National University Hospital from July 1997 to June 2007 for the removal of disk batteries. Endoscopic removal was attempted using a retrieval net or a magnetic extractor with a balloon (condom). The procedure times for removing the ingested battery were compared. RESULTS: Children that ingested batteries with a larger diameter (20 mm) had a greater chance to have esophageal impaction with serious injury, such as esophageal mucosal necrosis or ulcers, as compared to the ingestion of smaller diameter batteries (10 mm) (p<0.01). Endoscopic removal of disk batteries was attempted either using a retrieval net in 10 children or by using a magnetic extractor with a balloon in 6 children. Endoscopic removal using a retrieval net was more effective (mean procedure time: 1.5 min) as compared to using a magnetic extractor with a balloon (mean procedure time: 3.3 min) (p<0.05). CONCLUSION: Both procedures, either using a retrieval net or a magnetic extractor with a balloon were effective in removing ingested disk batteries. Based on our experience, an endoscopic procedure using a retrieval net was a more effective method for foreign body removal.
Child* ; Eating ; Endoscopy ; Esophagus ; Fistula ; Foreign Bodies ; Gyeongsangbuk-do ; Humans ; Male ; Mediastinitis ; Necrosis ; Pediatrics ; Ulcer

In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.