OBJECTIVES: To investigate the efficacy and safety of empagliflozin in patients with glycogen storage disease (GSD)-associated inflammatory bowel disease (IBD). METHODS: A cross-sectional study was conducted, enrolling 25 patients with GSD-associated IBD who received empagliflozin treatment. General data, details of empagliflozin use, and adverse events were collected. Clinical symptoms and biochemical parameters before and after empagliflozin therapy were compared. RESULTS: Twenty-five patients with GSD-associated IBD were included, with a median age at diagnosis of 0.7 years, and a mean age at initiation of empagliflozin therapy of (11 ± 6) years. The initial dose of empagliflozin was (0.30 ± 0.13) mg/(kg·d), with a maintenance dose of (0.40 ± 0.21) mg/(kg·d), and a treatment duration of (34 ± 6) months. Seventy-eight percent (18/23) of patients' parents reported that empagliflozin therapy reduced the frequency of infections and oral ulcers, and increased neutrophil counts. Clinically, the number of patients with anorexia decreased from 12 to 5 after treatment, and 30% showed improved appetite (P<0.05). The numbers of patients with diarrhea, mucus/bloody stools, perianal disease, and oral ulcers decreased from 19, 9, 11, and 21 before treatment to 7, 1, 0, and 10 after treatment, respectively (P<0.05). Laboratory findings showed that absolute neutrophil counts increased, while platelet counts, lactate, and uric acid levels decreased significantly after empagliflozin treatment (P<0.05). Adverse reactions occurred in 7 patients (28%) during empagliflozin treatment. Two cases occurred in the treatment initiation phase, presenting as hypotension or profuse sweating with dehydration, along with urinary tract infections (UTIs); empagliflozin was discontinued in both cases. During the maintenance phase, 3 cases of UTIs and 2 cases of hypoglycemia (one with profuse sweating) were reported. CONCLUSIONS Empagliflozin therapy can increase neutrophil counts, reduce the incidence of infections and oral ulcers, alleviate diarrhea and abdominal pain, improve appetite, and ameliorate platelet count, lactate, and uric acid levels in patients with GSD-associated IBD, demonstrating significant clinical benefit. UTIs, hypoglycemia, hypotension, profuse sweating, and dehydration may be potential adverse reactions associated with empagliflozin therapy.
Humans ; Benzhydryl Compounds/adverse effects* ; Male ; Female ; Glucosides/adverse effects* ; Inflammatory Bowel Diseases/etiology* ; Child ; Child, Preschool ; Cross-Sectional Studies ; Adolescent ; Glycogen Storage Disease/drug therapy* ; Infant

Objective: To analyze the short-time efficacy of empagliflozin in the treatment of glycogen storage disease type Ⅰb (GSD Ⅰb). Methods: In this prospective open-label single-arm study, the data of 4 patients were collected from the pediatric department in Peking Union Medical College Hospital from December 2020 to December 2022. All of them were diagnosed by gene sequencing and had neutropenia. These patients received empagliflozin treatment. Their clinical symptoms such as height and weight increase, abdominal pain, diarrhea, oral ulcer, infection times, and drug applications were recorded at 2 weeks, 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, and 15 months after treatment to assess the therapeutic effect. The liquid chromatography-tandem mass spectrometry method was used to monitor the changes in 1, 5-anhydroglucitol (1, 5AG) concentration in plasma. At the same time, adverse reactions such as hypoglycemia and urinary tract infection were closely followed up and monitored. Results: The 4 patients with GSD Ⅰb were 15, 14, 4 and 14 years old, respectively at the beginning of empagliflozin treatment, and were followed up for 15, 15, 12 and 6 months, respectively. Maintenance dose range of empagliflozin was 0.24-0.39 mg/(kg·d). The frequency of diarrhea and abdominal pain decreased in cases 2, 3, and 4 at 1, 2 and 3 months of treatment, respectively. Their height and weight increased at different degrees.The absolute count of neutrophils increased from 0.84×10⁹, 0.50×10⁹, 0.48×10⁹, 0.48×10⁹/L to 1.48×10⁹, 3.04×10⁹, 1.10×10⁹, 0.73×10⁹/L, respectively. Granulocyte colony-stimulating factor was gradually reduced in 1 patients and stopped in 3 patient. Plasma 1, 5 AG levels in 2 children were significantly decreased after administration of empagliflozin (from 46.3 mg/L to 9.6 mg/L in case 2, and from 56.1 mg/L to 15.0 mg/L in case 3). All 4 patients had no adverse reactions such as hypoglycemia, abnormal liver or kidney function, or urinary system infection. Conclusion: In short-term observation, empagliflozin can improve the symptoms of GSD Ⅰb oral ulcers, abdominal pain, diarrhea, and recurrent infection, also can alleviate neutropenia and decrease 1, 5AG concentration in plasma, with favorable safety.
Humans ; Child ; Child, Preschool ; Adolescent ; Prospective Studies ; Glycogen Storage Disease Type I/drug therapy* ; Neutropenia ; Abdominal Pain ; Diarrhea/drug therapy* ; Hypoglycemia

Pompe disease, also known as glycogen storage disease type Ⅱ, is a rare autosomal recessive disease. With the application of enzyme replacement therapy, more and more patients with Pompe disease can survive to adulthood, and nervous system-related clinical manifestations gradually emerge. Nervous system involvement seriously affects the quality of life of patients with Pompe disease, and a systematic understanding of the clinical manifestations, imaging features and pathological changes of nervous system injury in Pompe disease is of great significance for the early identification and intervention of Pompe disease. This article reviews the research progress of neurological damage in Pompe disease.
Humans ; Glycogen Storage Disease Type II/drug therapy* ; alpha-Glucosidases ; Quality of Life ; Enzyme Replacement Therapy

Wilms' tumor is the most common malignant renal tumor in childhood. The brain metastasis of a Wilms' tumor with anaplastic histopathology is rare. We present the case of an 8-year-old girl with Wilms' tumor, who presented with multiple brain metastases 5 years after her primary diagnosis. The brain masses were diagnosed after a generalized tonic-clonic seizure attack. The big solid mass in the cerebellum was resected, and whole-brain radiotherapy was performed, after which, she succumbed to her disease. In the case of clinical suspicion, cranial surveillance should be included in the routine clinical work-up for Wilms' tumor. Combined aggressive therapy (surgery+radiotherapy+chemotherapy) should be applied whenever possible, for both better survival and palliative aspects.
Brain* ; Cerebellum ; Child ; Diagnosis ; Drug Therapy ; Female ; Glycogen Storage Disease Type VI ; Humans ; Neoplasm Metastasis* ; Radiotherapy ; Seizures ; Wilms Tumor*

Adrenergic beta-1 Receptor Antagonists ; therapeutic use ; Angiotensin-Converting Enzyme Inhibitors ; therapeutic use ; Cardiomyopathy, Hypertrophic ; diagnosis ; drug therapy ; Electrocardiography ; Female ; Glycogen Storage Disease ; diagnosis ; drug therapy ; Humans ; Young Adult

We report a case of subcutaneous panniculitic T-cell lymphoma (SPTCL) which occurred in a 10-year-old Korean girl. Her disease presented as multiple erythematous subcutaneous nodules on the right cheek, left chest, abdomen, left flank, both calves, and left shin with systemic symptoms. She had a protracted course of multiple erythematous subcutaneous nodules for 2 months often with spiking fever. Histopathologic findings for the subcutaneous nodules revealed lobular panniculitis-like findings composed of atypical small, bland lymphocytes and histiocytes. Characteristically, atypical lymphocytes rimmed individual fat cells in a lace-like pattern and some histiocytes occasionally phagocytosed WBCs. Bone marrow findings revealed increased phagocytic histiocytes with engulfed hematopoietic cell. The immunophenotypic studies showed CD45RO (UCHLl)+, CD20-, CD4-, CD8+ and CD56+ (focal), lysozyme+, CD45 (LCA)+ and EBV-. She received three cycles of high-dose cyclophosphamide, adriamycin, vincristine, prednisolone (CHOP) and methotrexate, intrathecal methotrexate and one cycle of fludarabine, mitoxantrone and dexamethasone (FND) chemotherapy. She died of acute renal failure during multiple chemotherapy.
Abdomen ; Acute Kidney Injury ; Adipocytes ; Bone Marrow ; Cheek ; Child* ; Cyclophosphamide ; Dexamethasone ; Doxorubicin ; Drug Therapy ; Female ; Fever ; Glycogen Storage Disease Type VI ; Histiocytes ; Humans ; Lymphocytes ; Lymphoma, T-Cell* ; Lymphoma, T-Cell, Cutaneous ; Methotrexate ; Mitoxantrone ; Prednisolone ; T-Lymphocytes* ; Thorax ; Vincristine

Most T-cell lymphomas arise from mature alpabeta T-cells and commonly involve the nodes. Lymphomas bearing the gamadelta T-cell receptor (TCR) are very rare, and involve the lymph nodes minimally, if at all. Hepatosplenic gamadelta T-cell lymphoma is a recently identified, rare entity in which lymphoma cells bearing the gamadelta TCR infiltrate the sinusoids of the liver, splenic red pulp, and bone marrow. Its leukemic transformation is even more rare. Recently, we experienced a case of hepatosplenic gamadelta T-cell lymphoma in a 19-year-old woman who presented with epigastric pain, fever, massive splenomegaly, andpancytopenia. The splenectomy specimen and excisional biopsy of the liver revealed the infiltration of atypical T lymphocytes with the immunophenotypic markers of CD3 (+), CD45RO (pan-T antigen) (+), TIA-1(+), CD4(-),CD8 (-), CD56 (-), and S100 (-) in the sinusoids of the liver and splenic red pulp. Polymerase chain reaction (PCR) showed that these cells had the expression of the TCR gama gene rearrangements. Though the pancytopenia had improved after the splenectomy, the response of chemotherapy was transient. Her disease progressed rapidly and she expired in the leukemic phase. We report a case of hepatosplenic gamadelta T-cell lymphoma that developed in a young woman, along with a brief review of the literature.
Biopsy ; Bone Marrow ; Drug Therapy ; Female ; Fever ; Gene Rearrangement ; Glycogen Storage Disease Type VI ; Humans ; Liver ; Lymph Nodes ; Lymphoma ; Lymphoma, T-Cell* ; Pancytopenia ; Polymerase Chain Reaction ; Receptors, Antigen, T-Cell ; Splenectomy ; Splenomegaly ; T-Lymphocytes* ; Young Adult

We herein report a case of subcutaneous panniculitic T-cell lymphoma which occurred in a 48-year-old Korean woman. Her disease presented as multiple subcutaneous nodules on the arms, legs, and abdomen, with systemic symptoms and signs. From the results of immunophenotypic studies, we suggest her disease may originate from cytotoxic T-lymphocytes. The patient had a protracted course of multiple dark-red-colored subcutaneous nodules on both arms, legs, and abdomen for 1 year, often with fever, chills, and malaise. Histopathologic findings for the subcutaneous nodule in the lower abdomen revealed diffuse infiltration of atypical lymphocytes in the subcutis, with extensive fat necrosis and karyorrhexis and a bean-bag cell appearance with engulfed lymphocytes in some histiocytes. The immunophenotypic studies showed a cytotoxic T-lymphocyte profile, i. e., LCA+, lysozyme+, UCHL1+, CD8+, CD20-, CD30-, and CD56-. In situ hybridization studies for the Epstein-Barr virus genome resulted in a negative finding. A lymphadenopathy was found in the right upper paratracheal area on the chest CT associated with pancytopenia and abnormal LFT findings. She received high-dose chemotherapy with autologous blood stem cell transplantation, but died after 6 months.
Abdomen ; Arm ; Chills ; Drug Therapy ; Fat Necrosis ; Female ; Fever ; Genome ; Glycogen Storage Disease Type VI ; Herpesvirus 4, Human ; Histiocytes ; Humans ; In Situ Hybridization ; Leg ; Lymphatic Diseases ; Lymphocytes ; Lymphoma, T-Cell* ; Lymphoma, T-Cell, Cutaneous ; Middle Aged ; Pancytopenia ; Stem Cell Transplantation ; T-Lymphocytes* ; T-Lymphocytes, Cytotoxic ; Tomography, X-Ray Computed

Despite an aggressive surgical debulking followed by front-line chemotherapy, most patients with advanced ovarian carcinoma die of drug-resistant disease. Drug resistance can be overcome in a subset of patients with hematologic malignancies and lymphoma with high-dose therapy (HDT) and hematopoietic stem cell transplantation, suggesting that this therapy may also be value in ovarian carcinoma. We report the successful outcome of HDT and peripheral blood stem cell transplantation (PBSCT) in a 41-year-old nulliparous woman who initially was diagnosed with advanced ovarian carcicnoma with FIGO stage IIIc. Her disease relapsed after 19 months from initial therapy of definitive surgery and intra- and post-operative chemotherapy. Subsequently, she received optimal debulking surgery and salvage chemotherapy followed by HDT with triple- alkylating regimen, composed of cyclophosphamide (100 mg/kg), thiotepa (500 mg/m2), and melphalan (100 mg/m2). Her pretranplant characteristics were platinum-sensitive and complete response state. She showed rapid hematologic recovery and mild regimen-related toxicity (Bear man's toxicity criteria), stomatitis (grade I), cardiac toxicitiy (grade II). She has been followed up for 36 months after the inital therapy and is doing well without relapse.
Adult ; Cyclophosphamide ; Drug Resistance ; Drug Therapy ; Female ; Glycogen Storage Disease Type VI ; Hematologic Neoplasms ; Hematopoietic Stem Cell Transplantation ; Humans ; Lymphoma ; Melphalan ; Ovarian Neoplasms ; Peripheral Blood Stem Cell Transplantation* ; Recurrence ; Stomatitis ; Thiotepa

BACKGROUND: Patients with lung cancer and their relatives often ask the advice of relative or friends who are doctors on the treatment and prognosis of the disease. Therefore a doctor's opinion may play a role in determining the treatment modality and affect therapeutic compliance of patients. The purpose of this study was to find the opinion of general practitioners on lung cancer treatment. METHOD: A mail survey for general practitioners in Taegu City and Northern Kyungsang Province was performed. Each individual was sent a written questionnaire in which he or she was asked for ten questions about management and prognosis of lung cancer. RESULTS: Two hundred and twenty eight doctors filled in the questionnaire. Of the respondents, 68% had the experience of being asked about lung cancer by their friends or relatives. About 52% replied that it was better to tell the patient of his or her disease. And about 22% considered it better to follow the relatives' opinion. On the question about choosing the treatment modality, following the doctors' plan was most appropriate in 86.9%, showing that most respondents favored actively recommending doctors. Nonsurgical treatment was preferable in patients over 80 years old with resectable lung cancer and with an increase in age, significant increase was observed in respondents recommending nonsurgical treatment. Most respondents said that they would actively recommend or advise following the doctor' plan about radiotherapy and chemotherapy. But a large percent of the respondents had a negative view on the effect of radiotherapy and chemotherapy. CONCLUSION: The opinions of general practitioners on the treatment and prognosis of lung cancer was variable. And they did not prefer active treatment for patients with old age or advanced lung cancer.
Aged, 80 and over ; Compliance ; Daegu ; Drug Therapy ; Friends ; General Practitioners ; Glycogen Storage Disease Type VI ; Humans ; Lung Neoplasms* ; Lung* ; Postal Service ; Prognosis ; Surveys and Questionnaires ; Radiotherapy