scholarly journals Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum

2021 ◽  
Author(s):  
Gemma Garreta Fontelles ◽  
Júlia Pardo Pastor ◽  
Carme Grande Moreillo
Keyword(s):  
Low Dose ◽  
Young Patients ◽  
Case Series ◽  
Cystic Lymphangioma ◽  
Phosphatidylinositol 3 Kinase ◽  
Overgrowth Syndrome ◽  
Pi3k Inhibition ◽  
Surgical Debulking ◽  
Clinical Benefits ◽  
Life Threatening

CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) gene. It is part of the PIK3CA-related overgrowth syndrome (PROS) spectrum and its treatment is challenging. PROS malformations have traditionally been treated by surgery, but research into pharmacological treatments capable of blocking the PIK/AKT/mTOR pathway has increased over the past decade. Its favorable results in these settings suggest that its compassionate use in patients with PROS disorders could have clinical benefits. Another promising drug is Alpelisib, which is a selective inhibitor that competitively binds to the p110a subunit of PIK3 in the intracellular PI3K/AKT signaling pathway. A low dose of Alpelisib used on compassionate grounds was shown in an uncontrolled case series to have striking effects in a cohort of 19 PROS patients, several with life-threatening complications. Moreover, the low dose of Alpelisib provoked few side effects and did not impair linear growth of the often young patients. We present the case of a patient with CLOVES syndrome who was started on compassionate treatment with Alpelisib after surgical debulking of a cystic lymphangioma and treatment with sirolimus. This promising drug significantly reduced the size of the lymphangioma and prevented progression of the tissue overgrowth in the gluteal region. This case suggest that there may even be collateral benefits of low-dose PI3K inhibition beyond mitigating disease-specific features of PROS.

scholarly journals Etiologies and clinical characteristics of young patients with angle-closure glaucoma: a 15-year single-center retrospective study

2021 ◽  
Author(s):  
Feng Gao ◽  
Jiajian Wang ◽  
Junyi Chen ◽  
Xiaolei Wang ◽  
Yuhong Chen ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Anterior Segment ◽  
Young Patients ◽  
Case Series ◽  
Neovascular Glaucoma ◽  
Angle Closure Glaucoma ◽  
Angle Closure ◽  
Primary Angle Closure Glaucoma ◽  
Uncommon Presentation ◽  
Underlying Causes

Abstract Purpose To investigate the etiologies and the clinical characteristics of angle-closure glaucoma (ACG) patients younger than 40 years old in Chinese. Methods Inpatients with diagnosis of ACG and diagnosed age younger than or equal to 40 years old, who were admitted in Eye, Ear, Nose, and Throat Hospital Fudan University from 2002 to 2017, were included in this retrospective non-comparative case series. The underlying causes and clinical features for all the patients were analyzed by comprehensive review of medical charts. Results A total of 298 patients (463 eyes) met the criteria, including 153 females (51.3%) and 145 males (48.7%); the mean age was 25.6 ± 13.0 years. Primary angle-closure glaucoma (PACG), uveitis, and anterior segment dysgenesis (ASD) were the top three etiologies in our patients, which accounted for 32.6%, 20.3%, and 15.1% of the total patients respectively. PACG mainly occurs after 30 years of age and ASD is the top reason of ACG in patients younger than 20 years old. Other known etiologies include iridocorneal endothelial syndrome, neovascular glaucoma, nanophthalmos, retinitis pigmentosa, spherophakia, bestrophinopathy, persistent fetal vasculature, iridociliary cysts, congenital retinoschisis, Marfan’s syndrome, retinopathy of prematurity, familial exudative vitreoretinopathy, congenital retinal folds, Coat’s disease, and neurofibromatosis. Conclusions We described the uncommon presentation of ACG in Chinese young patients. Although unusual, most of the etiologies could be identified. Therefore, more careful and comprehensive examinations are needed for early detection and timely treatment for young ACG patients.

scholarly journals Case Series of Three Patients with Rifampicin-Induced Thrombocytopenia

2020 ◽  
Author(s):  
Chandramouli M.T
Keyword(s):  
Pulmonary Tuberculosis ◽  
Adverse Reactions ◽  
Rare Complication ◽  
Case Series ◽  
Tuberculosis Treatment ◽  
Effective Drug ◽  
Antitubercular Drugs ◽  
Short Course ◽  
Life Threatening

AbstractLife-threatening adverse reactions of antitubercular drugs are uncommon; however, thrombocytopenia is one such rare complication encountered with rifampicin, isoniazid, ethambutol, and pyrazinamide. Rifampicin is the most effective drug and its use in the tuberculosis treatment led to the emergence of modern and effective short-course regimens. I am reporting case series of three patients with pulmonary tuberculosis presented with rifampicin-induced thrombocytopenia.

scholarly journals Treatment and therapeutic strategies for pituitary apoplexy in pregnancy: a case series

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Yuya Kato ◽  
Yoshikazu Ogawa ◽  
Teiji Tominaga
Keyword(s):  
Pituitary Apoplexy ◽  
Clinical Symptoms ◽  
Case Series ◽  
Optimal Timing ◽  
Presenting Symptoms ◽  
Pathological Evaluation ◽  
Mother And Child ◽  
Life Threatening ◽  
In Pregnancy

Abstract Background Pregnancy is a known risk factor for pituitary apoplexy, which is life threatening for both mother and child. However, very few clinical interventions have been proposed for managing pituitary apoplexy in pregnancy. Case presentation We describe the management of three cases of pituitary apoplexy during pregnancy and review available literature. Presenting symptoms in our case series were headache and/or visual disturbances, and the etiology in all cases was hemorrhage. Conservative therapy was followed until 34 weeks of gestation, after which babies were delivered by cesarean section with prophylactic bolus hydrocortisone supplementation. Tumor removal was only electively performed after delivery using the transsphenoidal approach. All three patients and their babies had a good clinical course, and postoperative pathological evaluation revealed that all tumors were functional and that they secreted prolactin. Conclusions Although the mechanism of pituitary apoplexy occurrence remains unknown, the most important treatment strategy for pituitary apoplexy in pregnancy remains adequate hydrocortisone supplementation and frequent hormonal investigation. Radiological follow-up should be performed only if clinical symptoms deteriorate, and optimal timing for surgical resection should be discussed by a multidisciplinary team that includes obstetricians and neonatologists.

scholarly journals Macrophage Activation Syndrome in Adults: A Retrospective Case Series

2021 ◽  
Vol 9 ◽  
pp. 232470962110264
Author(s):  
Taylor Warmoth ◽  
Malvika Ramesh ◽  
Kenneth Iwuji ◽  
John S. Pixley
Keyword(s):  
Macrophage Activation Syndrome ◽  
Macrophage Activation ◽  
Pediatric Patients ◽  
Inflammatory Diseases ◽  
Systemic Juvenile Idiopathic Arthritis ◽  
Case Series ◽  
Adult Patients ◽  
Retrospective Case ◽  
Life Threatening ◽  
Activation Syndrome

Macrophage activation syndrome (MAS) is a form of hemophagocytic lymphohistocytosis that occurs in patients with a variety of inflammatory rheumatologic conditions. Traditionally, it is noted in pediatric patients with systemic juvenile idiopathic arthritis and systemic lupus erythematous. It is a rapidly progressive and life-threatening syndrome of excess immune activation with an estimated mortality rate of 40% in children. It has become clear recently that MAS occurs in adult patients with underlying rheumatic inflammatory diseases. In this article, we describe 6 adult patients with likely underlying MAS. This case series will outline factors related to diagnosis, pathophysiology, and review present therapeutic strategies.

Combining Microfractures, Autologous Bone Graft, and Autologous Matrix-Induced Chondrogenesis for the Treatment of Juvenile Osteochondral Talar Lesions

2017 ◽  
Vol 38 (5) ◽  
pp. 485-495 ◽  
Author(s):  
Riccardo D’Ambrosi ◽  
Camilla Maccario ◽  
Chiara Ursino ◽  
Nicola Serra ◽  
Federico Giuseppe Usuelli
Keyword(s):  
Bone Graft ◽  
Repeated Measures ◽  
Osteochondral Lesion ◽  
Young Patients ◽  
Case Series ◽  
Autologous Bone Graft ◽  
Lesion Size ◽  
Level Of Evidence ◽  
Significant Difference ◽  
Autologous Bone

Background: The purpose of this study was to evaluate the clinical and radiologic outcomes of patients younger than 20 years, treated with the arthroscopic-talus autologous matrix-induced chondrogenesis (AT-AMIC) technique and autologous bone graft for osteochondral lesion of the talus (OLT). Methods: Eleven patients under 20 years (range 13.3-20.0) underwent the AT-AMIC procedure and autologous bone graft for OLTs. Patients were evaluated preoperatively (T0) and at 6 (T1), 12 (T2), and 24 (T3) months postoperatively, using the American Orthopaedic Foot & Ankle Society Ankle and Hindfoot (AOFAS) score, the visual analog scale and the SF-12 respectively in its Mental and Physical Component Scores. Radiologic assessment included computed tomographic (CT) scan, magnetic resonance imaging (MRI) and intraoperative measurement of the lesion. A multivariate statistical analysis was performed. Results: Mean lesion size measured during surgery was 1.1 cm3 ± 0.5 cm3. We found a significant difference in clinical and radiologic parameters with analysis of variance for repeated measures ( P < .001). All clinical scores significantly improved ( P < .05) from T0 to T3. Lesion area significantly reduced from 119.1 ± 29.1 mm2 preoperatively to 77.9 ± 15.8 mm2 ( P < .05) at final follow-up as assessed by CT, and from 132.2 ± 31.3 mm2 to 85.3 ± 14.5 mm2 ( P < .05) as assessed by MRI. Moreover, we noted an important correlation between intraoperative size of the lesion and body mass index (BMI) ( P = .011). Conclusions: The technique can be considered safe and effective with early good results in young patients. Moreover, we demonstrated a significant correlation between BMI and lesion size and a significant impact of OLTs on quality of life. Level of Evidence: Level IV, retrospective case series.

scholarly journals Acute Pancreatitis as a Complication of Antiepileptic Treatment: Case Series and Review of the Literature

2021 ◽  
Vol 13 (1) ◽  
pp. 98-103
Author(s):  
Agnieszka Pawłowska-Kamieniak ◽  
Paulina Krawiec ◽  
Elżbieta Pac-Kożuchowska
Keyword(s):  
Valproic Acid ◽  
Acute Pancreatitis ◽  
Metabolic Disorders ◽  
Genetic Factors ◽  
Clinical Symptoms ◽  
Gallstone Disease ◽  
Young Patients ◽  
Case Series ◽  
Review Of The Literature ◽  
Acid Therapy

Acute pancreatitis (AP) appears to be rare disease in childhood. In children, it has a different aetiology and course, and requires different management than in adult patients. The diagnosis of AP is based on at least two of the three criteria, which include typical clinical symptoms, abnormalities in laboratory tests and/or imaging studies of the pancreas. There are many known causes leading to AP in children including infections, blunt abdominal trauma, genetic factors, gallstone disease, metabolic disorders, anatomical defects of the pancreas, systemic diseases, as well as drugs, including antiepileptic drugs, and especially preparations of valproic acid. In our study, we present four cases of young patients diagnosed with acute pancreatitis as a complication of valproic acid therapy and we present a review of the literature. We believe that the activity of pancreatic enzymes should be monitored in children treated with valproate preparations in the case of clinical symptoms suggesting AP.

scholarly journals Treating Alpelisib-Induced Hyperglycemia with Very Low Carbohydrate Diets and Sodium-Glucose Co-Transporter 2 Inhibitors: A Case Series

2021 ◽  
Vol 20 ◽  
pp. 153473542110322
Author(s):  
Tahj Blow ◽  
Parker N. Hyde ◽  
John N. Falcone ◽  
Aaron Neinstein ◽  
Neil Vasan ◽  
...  
Keyword(s):  
Treatment Efficacy ◽  
Case Series ◽  
Growth Factor Receptor ◽  
Anecdotal Evidence ◽  
Phosphatidylinositol 3 Kinase ◽  
Treatment Delays ◽  
Hormone Receptor Positive ◽  
Low Carbohydrate ◽  
Epidermal Growth ◽  
Dose Reductions

Alpelisib is a α-selective phosphatidylinositol 3-kinase (PI3K) inhibitor approved for treatment of postmenopausal women, and men, with hormone receptor positive (HR+), human epidermal growth factor receptor 2 negative (HER2–), PIK3CA-mutated, advanced breast cancer (ABC). Hyperglycemia is a common, on-target adverse effect that impairs treatment efficacy and increases the rate of treatment delays, dose reductions, and discontinuation. Currently, there are no clear guidelines on how to manage hyperglycemia due to alpelisib when metformin is not effective. In this case series, we review 3 subjects with ABC that developed hyperglycemia during alpelisib-fulvestrant therapy and were successfully managed with dietary and pharmacologic interventions. These cases provide anecdotal evidence to support the use of sodium-glucose co-transporter-2 inhibitors (SGLT2i) and very low carbohydrate diets to minimize hyperglycemia during alpelisib therapy.

scholarly journals Autoimmune Hemolytic Anemia as a Complication of Congenital Anemias. A Case Series and Review of the Literature

2021 ◽  
Vol 10 (15) ◽  
pp. 3439
Author(s):  
Irene Motta ◽  
Juri Giannotta ◽  
Marta Ferraresi ◽  
Kordelia Barbullushi ◽  
Nicoletta Revelli ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Case Series ◽  
Intravenous Immunoglobulins ◽  
Point Of View ◽  
First Line ◽  
Human Erythropoietin ◽  
Immune Mediated ◽  
Hemolytic Crisis ◽  
Life Threatening

Congenital anemias may be complicated by immune-mediated hemolytic crisis. Alloantibodies are usually seen in chronically transfused patients, and autoantibodies have also been described, although they are rarely associated with overt autoimmune hemolytic anemia (AIHA), a serious and potentially life-threatening complication. Given the lack of data on the AIHA diagnosis and management in congenital anemias, we retrospectively evaluated all clinically relevant AIHA cases occurring at a referral center for AIHA, hemoglobinopathies, and chronic hemolytic anemias, focusing on clinical management and outcome. In our cohort, AIHA had a prevalence of 1% (14/1410 patients). The majority were warm AIHA. Possible triggers were recent transfusion, infection, pregnancy, and surgery. All the patients received steroid therapy as the first line, and about 25% required further treatment, including rituximab, azathioprine, intravenous immunoglobulins, and cyclophosphamide. Transfusion support was required in 57% of the patients with non-transfusion-dependent anemia, and recombinant human erythropoietin was safely administered in one third of the patients. AIHA in congenital anemias may be challenging both from a diagnostic and a therapeutic point of view. A proper evaluation of hemolytic markers, bone marrow compensation, and assessment of the direct antiglobulin test is mandatory.

scholarly journals Myopia Control with Combination Low-Dose Atropine and Peripheral Defocus Soft Contact Lenses: A Case Series

2021 ◽  
pp. 548-554
Author(s):  
Nir Erdinest ◽  
Naomi London ◽  
Nadav Levinger ◽  
Yair Morad
Keyword(s):  
Low Dose ◽  
Contact Lenses ◽  
Case Series ◽  
Concentric Circle ◽  
Retrospective Case ◽  
Soft Contact ◽  
Myopia Progression ◽  
Soft Contact Lenses ◽  
Center Distance ◽  
Myopia Control

The goal of this retrospective case series is to demonstrate the effectivity of combination low-dose atropine therapy with peripheral defocus, double concentric circle design with a center distance soft contact lenses at controlling myopia progression over 1 year of treatment. Included in this series are 3 female children aged 8–10 years with progressing myopia averaging −4.37 ± 0.88 D at the beginning of treatment. Their average annual myopic progression during the 3 years prior to therapy was 1.12 ± 0.75 D. They had not attempted any myopia control treatments prior to this therapy. The children were treated with a combination of 0.01% atropine therapy with spherical peripheral defocus daily replacement soft lenses MiSight<sup>®</sup> 1 day (Cooper Vision, Phoenix, AZ, USA). They underwent cycloplegic refraction, and a slit-lamp evaluation every 6 months which confirmed no adverse reactions or staining was present. Each of the 3 children exhibited an average of 0.25 ± 0.25 D of myopia progression at the end of 1 year of treatment. To the best of the authors’ knowledge, this is the first published study exhibiting that combining low-dose atropine and peripheral defocus soft contact lenses is effective at controlling children’s moderate to severe myopia progression during 1 year of therapy.

scholarly journals Acute abdomen in children due to different presentations of complicated Meckel’s diverticulum: a case series

2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Hisham A. Almetaher ◽  
Mohammed Awad Mansour
Keyword(s):  
Congenital Abnormality ◽  
Wedge Resection ◽  
Meckel’S Diverticulum ◽  
Case Series ◽  
Postoperative Outcome ◽  
Meckel's Diverticulum ◽  
Gastrointestinal Disorders ◽  
Clinical Presentations ◽  
Life Threatening ◽  
Small Base

Abstract Background Meckel’s diverticulum (MD) is the commonest congenital abnormality of the gastrointestinal tract that occurs in 2% of general population. It remains asymptomatic, but it may lead to life-threatening complications. These complications may be misdiagnosed with other gastrointestinal disorders like acute appendicitis, making its diagnosis challenging among pediatricians and pediatric surgeons. In this study, we reported five cases with different presentations of complicated MD in children. Results Five patients with different presentations of MD were reported during the period from January 2016 to January 2020. Patients’ demographics, clinical presentations, investigations, operative data, and postoperative outcome were recorded and analyzed. Conclusions The present study highlights different presentations of MD. Surgical interference is the main key of treatment of symptomatic MD either by wedge resection of a small base diverticulum or by resection anastomosis of the small intestine in wide base and inflamed diverticulum.

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