scholarly journals DiGeorge syndrome presenting with seizure in neonatal period: a case report

2021 ◽  
Vol 11 (2) ◽  
pp. 128-132
Author(s):  
Noorjahan Begum ◽  
Fauzia Mohsin ◽  
Abu Sufian ◽  
Nasreen Islam ◽  
Jebun Nahar ◽  
...  
Keyword(s):  
Case Report ◽  
Digeorge Syndrome ◽  
Neonatal Period ◽  
Facial Dysmorphism ◽  
Chromosome 22Q11.2 ◽  
Wide Variability ◽  
History Of ◽  
Cellular Immunodeficiency ◽  
Afebrile Seizure

DiGeorge syndrome is caused by a micro-deletion of chromosome 22q11.2 that disrupts development of the third and fourth pharyngeal pouches during early embryogenesis. Other structures forming at the same period are also frequently affected. So, the phenotypic spectrum shows a wide variability. In this case report, we describe a 1-month and 24-day old male child who presented with history of recurrent afebrile seizure and noisy breathing since early neonatal period. He had history of repeated chest infections. On examination, patient had stridor, facial dysmorphism, pectus excavatum and clinical features of pneumonia. Investigations revealed hypocalcaemia, hypoparathyroidism, consolidation on X-ray chest and cellular immunodeficiency. Echocardiography findings were normal. Fluorescent in situ hybridization (FISH) was performed which confirmed the diagnosis 22q11.2 deletion. Birdem Med J 2021; 11(2): 128-132

scholarly journals Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Sira Korpaisarn ◽  
Objoon Trachoo ◽  
Chutintorn Sriphrapradang
Keyword(s):  
Recurrent Infection ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Facial Features ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
History Of ◽  
Chromosome 22Q11.2 Deletion Syndrome

We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.

Stone Formation on Suture Material Following Laparoscopic Pyeloplasty Causing Recurrent Puj Obstruction: A Case Report

2020 ◽  
Vol 21 (2) ◽  
pp. 164-165
Author(s):  
Md Nasir Uddin ◽  
MM Hasan ◽  
Fahmida Bayes Kakan ◽  
Sarwar Hossain Khan
Keyword(s):  
Case Report ◽  
Suture Material ◽  
Stone Formation ◽  
Flank Pain ◽  
Laparoscopic Pyeloplasty ◽  
Partial Obstruction ◽  
Ct Urogram ◽  
History Of ◽  
Operative Recovery

Male patient 46 years of age presented with history of Laparoscopic A-H pyeloplasty with DJ stenting for left side hydronephrosis due to PUJ obstruction. After stent removed he experienced intermittent flank pain, discomfort with fullness sensation. On examination there was mild left renal angle tenderness. Urinalysis showed RBC. USG revealed moderate left hydronephrosis. CT urogram showed left side gross HDN with 5 mm PUJ stone. Tc-99m DTPA renal scan revealed partial obstruction. After counseled and exploration founded an impacted PUJ stone. During removal of PUJ stone, identified a suture material embedded by the stone. After removed the stone,PUJ still narrowed. Then A- H pyeloplasty done with placed a D-J stent in situ. The patient had a good post-operative recovery. Bangladesh Journal of Urology, Vol. 21, No. 2, July 2018 p.164-165

scholarly journals Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

1998 ◽  
Vol 5 (3) ◽  
pp. 415-417 ◽  
Author(s):  
Christopher A. Smith ◽  
Deborah A. Driscoll ◽  
Beverly S. Emanuel ◽  
Donna M. McDonald-McGinn ◽  
Elaine H. Zackai ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Immunoglobulin A ◽  
22Q11.2 Deletion Syndrome ◽  
Velocardiofacial Syndrome ◽  
Iga Deficiency ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
Cellular Immunodeficiency ◽  
Chromosome 22Q11.2 Deletion Syndrome

ABSTRACT We wished to determine the prevalence of immunoglobulin A (IgA) deficiency in patients with the chromosome 22q11.2 deletion syndrome. A total of 32 patients with the chromosome 22q11.2 deletion were examined for IgA deficiency. We report a 13% (n = 4) prevalence of IgA deficiency in patients with this syndrome. The odds ratio of IgA deficiency in this population is 14.20 (P< 0.0001). This confirms the occurrence of significant humoral deficits in this predominantly cellular immunodeficiency.

scholarly journals Neonatal Pemphigus Vulgaris: A Case Report

2020 ◽  
Vol 8 (4) ◽  
Author(s):  
Fahimeh Abdollahimajd ◽  
Minoo Fallahi ◽  
Azadeh Rakhshan ◽  
Naeeme Taslimi Taleghani ◽  
Mohammad Kazemian ◽  
...  
Keyword(s):  
Case Report ◽  
Fungal Pathogens ◽  
Neonatal Period ◽  
Pemphigus Vulgaris ◽  
Skin Lesions ◽  
Antimicrobial Treatment ◽  
Incontinentia Pigmenti ◽  
Maternal History ◽  
Transmembrane Glycoprotein ◽  
History Of

: Pemphigus vulgaris (PV) is an autoimmune blistering disorder of the skin and mucous membranes. The transplacental passage of maternal immunoglobulin G (IgG) autoantibodies to desmoglein-3 (a transmembrane glycoprotein component in the skin) from the mother’s blood to the fetus can cause transient PV in the neonatal period. The duration of PV is short in the neonatal period, and the disease is improved with no prolonged sequelae. The similarity of skin lesions in PV to other skin conditions, such as infectious diseases caused by bacterial, viral, and fungal pathogens, or inherited bullous disorders, such as epidermolysis bullosa and incontinentia pigmenti, leads to misdiagnosis, inappropriate hospital admission, and poor antimicrobial treatment of patients. On the other hand, the maternal history of PV, besides laboratory examination, confirms the exact diagnosis. In this case report, we present a male term neonate with multiple pustules and blisters on the skin, developed within the first hours of life. The patient was admitted to the neonatal ward of our hospital for a sepsis workup and antibiotic treatment. Regarding the positive maternal history of PV in the second trimester of pregnancy and neonatal examinations skin biopsy confirmed the diagnosis of this disease.

scholarly journals Retained plastic biliary stent presenting with obstructive jaundice: a case report

2021 ◽  
Vol 8 (9) ◽  
pp. 2792
Author(s):  
Gayatri Muley ◽  
Waqar Ansari ◽  
Atish Parikh ◽  
Dhiraj Kachare ◽  
Urvashi Jain ◽  
...  
Keyword(s):  
Case Report ◽  
Obstructive Jaundice ◽  
Biliary Obstruction ◽  
Biliary Stent ◽  
Plastic Stent ◽  
History Of ◽  
Lost To Follow Up ◽  
Cbd Exploration

Forgotten stents may lead to serious complications. We present a case report of a forgotten common bile duct (CBD) fully covered plastic stent presenting with Obstructive Jaundice. A 66 years-old female patient presented with features of obstructive jaundice. Further enquiry revealed a history of ERCP guided biliary stent placement 12 years ago, after which she was lost to follow up. An endoscopic attempt to retrieve the old stent and relieve biliary obstruction was unsuccessful, and a fresh stent was placed across the CBD following a sphincterotomy. CT showed evidence of a stent in situ, alongside calcified fragments of the previous stent and multiple CBD stones. Patient was taken up for surgery and Roux-en-y hepaticojejunostomy was performed following CBD exploration and retrieval of the stent-stone complex.

Juvenile Papillomatosis (Swiss-Cheese Disease) of Breast in an Adult Male With Sequential Diagnoses of Ipsilateral Intraductal, Invasive, and Widely Metastatic Carcinoma: A Case Report and Review of the Disease in Males

2017 ◽  
Vol 25 (6) ◽  
pp. 536-542 ◽  
Author(s):  
Kartik Viswanathan ◽  
Brian McMillen ◽  
Esther Cheng ◽  
Timothy D’Alfonso ◽  
Ami Patel ◽  
...  
Keyword(s):  
Case Report ◽  
Invasive Carcinoma ◽  
Metastatic Carcinoma ◽  
Swiss Cheese ◽  
Strong Family History ◽  
Young Females ◽  
History Of ◽  
Papillary Hyperplasia ◽  
Multiple Cysts

Juvenile papillomatosis of the breast (JPB, also known as Swiss cheese disease) is a rare ailment that typically afflicts young females, and presents as a mass-forming lesion. The lesional mass usually comprises multiple cysts and duct stasis, amid a variety of proliferative and nonproliferative epithelial changes. The proliferative changes include papillary hyperplasia, florid hyperplasia, and papillary apocrine hyperplasia. Concurrent carcinoma (either in situ or invasive) is present in approximately 10% of cases at presentation, and subsequent carcinoma (either in situ or invasive) is diagnosed in about 10% of patients. About 20% of patients have a strong family history of breast carcinoma. A total of 10 cases of JPB have been previously reported in males, both children and adults, only one of which, in a 33-year-old, was associated with invasive carcinoma. Here, another case of JPB in a 45-year-old male—one with subsequent sequential diagnoses of ipsilateral intraductal carcinoma, invasive carcinoma, and widely metastatic carcinoma over the course of 15 years—is reported.

scholarly journals An Unusual Presentation of CLL/SLL on Mammography: Case Report

2020 ◽  
Author(s):  
Anas Mohamed ◽  
Ahmed Younes ◽  
John Stephen Stalls ◽  
Aisha Kousar ◽  
Tian Li
Keyword(s):  
Case Report ◽  
Chronic Lymphocytic Leukemia ◽  
Ductal Carcinoma In Situ ◽  
Carcinoma In Situ ◽  
Ductal Carcinoma ◽  
Contralateral Breast ◽  
Lymphocytic Leukemia ◽  
Small Lymphocytic Lymphoma ◽  
History Of

Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) of the breast is rare. We report a 59-year-old female with remote history of ductal carcinoma in situ treated with radiation and tamoxifen, who was recently diagnosed with CLL/SLL of contralateral breast after a localized suspicious cluster of masses was detected on routine mammography.

scholarly journals Partial uterine perforation and ovarian embedment of misplaced intrauterine device: a case report

2020 ◽  
Vol 9 (12) ◽  
pp. 5114
Author(s):  
Abhishek Kaushik ◽  
Dalpat S. Rajpurohit ◽  
Kirti Chaturvedy ◽  
Sunil Vishnoi ◽  
Anish H. Panduranga ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Transvaginal Ultrasound ◽  
Intrauterine Device ◽  
Lower Abdominal Pain ◽  
Final Diagnosis ◽  
Uterine Perforation ◽  
Intrauterine Devices ◽  
History Of

Intrauterine devices (IUDs) are the commonest form of contraceptive method in use globally. IUDs like other methods of contraception may be associated with its own complications. The major risk includes uterine perforation with embedment, migration, and/or expulsion. A 35 year old female who had a history of postpartum IUD insertion 10 years ago was referred to our institute with complains of severe lower abdominal pain and vomiting since 10 days. Transabdominal and transvaginal ultrasound (TAS/TVS) were done. Ultrasound led to the final diagnosis of ovarian embedment of the IUD. Laparotomy with IUD removal was successfully performed. This case report highlights one of the rare complications of IUD migrating to the left ovary in a patient presenting with lower abdominal pain. In a patient with history an IUD insertion in situ, lower abdominal pain and missing threads on examination should wary the gynaecologist to the possibility of total or partial transmigration of the device into the pelvis or abdomen.

scholarly journals Micromelanomas: A Review of Melanomas≤2 mm and a Case Report

2014 ◽  
Vol 2014 ◽  
pp. 1-4
Author(s):  
Sharad P. Paul
Keyword(s):  
Case Report ◽  
Previous History ◽  
Melanoma In Situ ◽  
Pigmented Lesions ◽  
Pigmented Lesion ◽  
History Of

The ABCD acronym used to screen pigmented lesions for melanoma obviously was not designed to contend with melanomas that are under 2 mm in diameter. Previously, views ranged that such small lesions could not be melanomas until a few reports of such “micromelanomas” emerged. The author presents a 2 mm melanoma in situ presenting as an insignificant pigmented lesion in a 60-year-old patient with no previous history of melanoma or multiple nevi—which is usually the norm in cases of small melanoma. This paper reiterates the fact that when it comes to a melanoma, size does not matter. In this paper, the term “micromelanoma” is used by the author to represent melanomas under 2 mm. Dermatoscopy and histopathology findings are discussed in this case, along with a review of small melanomas.

The evolutionary history of Drosophila buzzatii. XXIII. High content of nonsatellite repetitive DNA in D. buzzatii and in its sibling D. koepferae

Genome ◽  
1992 ◽  
Vol 35 (6) ◽  
pp. 967-974 ◽  
Author(s):  
I. Marin ◽  
M. Labrador ◽  
A. Fontdevila
Keyword(s):  
Repetitive Dna ◽  
Sibling Species ◽  
Genomic Dna ◽  
Repetitive Sequences ◽  
Polytene Chromosomes ◽  
Drosophila Buzzatii ◽  
Repleta Group ◽  
Wide Variability ◽  
History Of

The frequency and types of repetitive nonsatellite DNA of two sibling species of the repleta group of Drosophila, D. buzzatii, and D. koepferae have been determined. For each species, the analysis is based on a sample of more than 100 clones (400 kb) obtained from genomic DNA. A theoretical model has been developed to correct for the presence of a mixture of repetitive and unique DNA in these clones. After correction, a high content of repetitive DNA has been demonstrated for both species (D. buzzatii, 19–26%; D. koepferae, 27–32%). The repetitive sequences have been classified according to their hybridization pattern when used as probes against genomic DNA and by their in situ hybridization signals on polytene chromosomes. Data suggest that the main nonsatellite component of these species is simpler and more repetitive than that of D. melanogaster, pointing to a wide variability in content and class size distribution of repetitive DNA among Drosophila species.Key words: repetitive DNA, DNA evolution, Drosophila, repleta group, sibling species.

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