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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™
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Articles 1 - 17 of 17
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Nevus Sebaceous Of Jadassohn With Secondary Cystic Papillary Hidradenoma, Jordan A. Book, Rosemary Prejean, Jonathan M. Joseph, Nicholas Culotta, Christopher Haas
Nevus Sebaceous Of Jadassohn With Secondary Cystic Papillary Hidradenoma, Jordan A. Book, Rosemary Prejean, Jonathan M. Joseph, Nicholas Culotta, Christopher Haas
School of Medicine Faculty Publications
Nevus sebaceous of Jadassohn (NS) is a congenital cutaneous hamartoma that typically presents at birth as a plaque on the face, scalp, or neck. While NS is associated with a risk of neoplastic transformation, the majority of secondary tumors are benign, with the most common being trichoblastomas and syringocystadenomas. In this report, we present a rare case of a 63-year-old male with a right parietal scalp NS with a secondary cystic papillary hidradenoma (HP), which is a benign tumor that almost exclusively occurs in the perineal region. Histopathologic examination was consistent with NS, revealing hyperkeratosis, parakeratosis, increased sebaceous glands, ectopic …
Debunking Myths: Sickle Cell Trait, Crises & Sudden Death, Michael R. Debaun, Corey J. Hebert, Yvette Marie Miller
Debunking Myths: Sickle Cell Trait, Crises & Sudden Death, Michael R. Debaun, Corey J. Hebert, Yvette Marie Miller
School of Medicine Faculty Publications
No abstract provided.
Clinical Outcomes In Patients With Cystic Fibrosis Receiving Cftr Modulators: A Comparison Of Childhood Versus Adolescent Initiation, Eman A. Toraih, Hassan A. Malik, Rahib K. Islam, Humza A. Pirzadah, Ahmed Abdelmaksoud, Rami M. Elshazli, Paul Antwi Boasiako, Shehab Ahmed Alenazi, Angelique Dabel, Jessan A. Jishu, Bandar T. Alenezi, Hani Aiash, Manal S. Fawzy
Clinical Outcomes In Patients With Cystic Fibrosis Receiving Cftr Modulators: A Comparison Of Childhood Versus Adolescent Initiation, Eman A. Toraih, Hassan A. Malik, Rahib K. Islam, Humza A. Pirzadah, Ahmed Abdelmaksoud, Rami M. Elshazli, Paul Antwi Boasiako, Shehab Ahmed Alenazi, Angelique Dabel, Jessan A. Jishu, Bandar T. Alenezi, Hani Aiash, Manal S. Fawzy
School of Medicine Faculty Publications
BACKGROUND/OBJECTIVES: Cystic fibrosis (CF) is a life-limiting genetic disorder affecting multiple organ systems. This study compared clinical outcomes, hospitalization rates, and survival between children and adolescents with CF who received CFTR modulator therapies (ivacaftor, lumacaftor, tezacaftor, and elexacaftor). METHODS: A retrospective cohort study was conducted using data from the TriNetX global collaborative network. Patients with CF aged 2-12 years (children) and 13-18 years (adolescents) who received CFTR modulator therapies were included. The propensity score matching balanced baseline characteristics between the two age groups. RESULTS: After propensity score matching, 946 patients per group were analyzed. The incidence of respiratory failure (3.81% …
Case Report: Disseminated Herpes Simplex Virus Complicated By Hemophagocytic Lymphohistiocytosis In A Neonate, Nicholas Tadros, Nihal Godiwala
Case Report: Disseminated Herpes Simplex Virus Complicated By Hemophagocytic Lymphohistiocytosis In A Neonate, Nicholas Tadros, Nihal Godiwala
School of Medicine Faculty Publications
Neonatal herpes simplex virus (HSV) infection carries a high mortality rate due to its potential to cause disseminated disease involving multiple organ systems, which can rapidly progress to shock and death if not promptly treated. In rare cases, neonates may mount an uncontrolled inflammatory response leading to hemophagocytic lymphohistiocytosis (HLH), a severe hyperinflammatory syndrome. We present a case of neonatal HSV infection complicated by HLH, highlighting the challenges of managing both conditions concurrently. Our therapeutic approach demonstrated a reduction in systemic inflammation and viral load; however, despite these efforts, the patient developed multiorgan failure and ultimately died from the initial …
Normalization Of Cystic Fibrosis Immune System Reverses Intestinal Neutrophilic Inflammation And Significantly Improves The Survival Of Cystic Fibrosis Mice, Callie E. Scull, Yawen Hu, Scott Jennings, Guoshun Wang
Normalization Of Cystic Fibrosis Immune System Reverses Intestinal Neutrophilic Inflammation And Significantly Improves The Survival Of Cystic Fibrosis Mice, Callie E. Scull, Yawen Hu, Scott Jennings, Guoshun Wang
School of Medicine Faculty Publications
BACKGROUND & AIMS: Cystic fibrosis (CF) is an autosomal recessive genetic disorder, affecting multiple organ systems. CF intestinal disease develops early, manifesting as intestinal bacterial overgrowth/dysbiosis, neutrophilic inflammation, and obstruction. As unresolvable infection and inflammation reflect host immune deficiency, we sought to determine if the CF-affected immune system plays any significant role in CF intestinal disease pathogenesis. METHODS: CF and sibling wild-type (WT) mice underwent reciprocal bone marrow transplantation. After immune reconstitution, their mortality, intestinal transit, fecal inflammatory markers, and mucosal immune cell composition were assessed. Moreover, reciprocal neutrophil transfusion was conducted to determine if neutrophil function affects intestinal movement. …
Knowledge And Confidence Of Obstetrics And Gynecology Residents In The Evaluation And Management Of Heavy Menstrual Bleeding Due To Inherited Bleeding Disorders, Patricia S. Huguelet, Irmel A. Ayala, Laurel Beaty, Christina Bemrich-Stolz, Claudia Borzutzky, Tazim Dowlut-Mcelroy, Sweta Gupta, Kendra Hutchens, Corinna L. Schultz, Lakshmi Srivaths, Maria C. Velez, Neeraja Swaminathan
Knowledge And Confidence Of Obstetrics And Gynecology Residents In The Evaluation And Management Of Heavy Menstrual Bleeding Due To Inherited Bleeding Disorders, Patricia S. Huguelet, Irmel A. Ayala, Laurel Beaty, Christina Bemrich-Stolz, Claudia Borzutzky, Tazim Dowlut-Mcelroy, Sweta Gupta, Kendra Hutchens, Corinna L. Schultz, Lakshmi Srivaths, Maria C. Velez, Neeraja Swaminathan
School of Medicine Faculty Publications
BACKGROUND: Heavy menstrual bleeding (HMB) is common, and 20-30% of patients presenting with HMB are diagnosed with an inherited bleeding disorder (IBD). Despite the frequent association of HMB with bleeding disorders, specific learning objectives on this topic are lacking for Obstetrics and Gynecology (OBGYN) residents. OBJECTIVE: We sought to determine the exposure of OBGYN residents to didactics, clinical training, and confidence in evaluation and management of patients with HMB due to IBDs. METHODS: Prospective survey of OBGYN residents through email solicitation. Residents were invited to complete an anonymous 26-item survey, querying residents' confidence in evaluation and management of HMB in …
Alkindi Sprinkle For Pediatric Patients With Primary Adrenocortical Insufficiency: A Narrative Review, Alan D. Kaye, Munira E. Khaled, Kristin Nicole Bembenick, John Lacey, Anamika Tandon, Rucha A. Kelkar, Alyssa G. Derouen, Corrado Ballaera, Debbie Chandler, Shahab Ahmadzadeh, Sahar Shekoohi, Giustino Varrassi
Alkindi Sprinkle For Pediatric Patients With Primary Adrenocortical Insufficiency: A Narrative Review, Alan D. Kaye, Munira E. Khaled, Kristin Nicole Bembenick, John Lacey, Anamika Tandon, Rucha A. Kelkar, Alyssa G. Derouen, Corrado Ballaera, Debbie Chandler, Shahab Ahmadzadeh, Sahar Shekoohi, Giustino Varrassi
School of Medicine Faculty Publications
Adrenocortical insufficiency, also known as adrenal insufficiency (AI), is an endocrine disorder characterized by inadequate production of adrenal hormones, including glucocorticoids and mineralocorticoids (MCs). The condition can be categorized as primary, secondary, or tertiary AI, depending on the location of the defect. Classical symptoms of AI include weakness, fatigue, abdominal pain, tachycardia, hypotension, electrolyte imbalances, and hyperpigmentation. In children, the most common cause of AI is classical congenital adrenal hyperplasia, which results from a deficiency in the 21-hydroxylase enzyme. The 21-hydroxylase enzyme produces all steroids, such as cortisol and aldosterone. AI management primarily involves hormone replacement therapy, typically with oral …
Ic3d Classification Of Corneal Dystrophies-Edition 3, Jayne S. Weiss, Christopher J. Rapuano, Berthold Seitz, Massimo Busin, Tero T. Kivelä, Nacim Bouheraoua, Cecilie Bredrup, Ken K. Nischal, Harshvardhan Chawla, Vincent Borderie, Kenneth R. Kenyon, Eung Kweon Kim, Hans Ulrik Møller, Francis L. Munier, Tim Berger, Walter Lisch
Ic3d Classification Of Corneal Dystrophies-Edition 3, Jayne S. Weiss, Christopher J. Rapuano, Berthold Seitz, Massimo Busin, Tero T. Kivelä, Nacim Bouheraoua, Cecilie Bredrup, Ken K. Nischal, Harshvardhan Chawla, Vincent Borderie, Kenneth R. Kenyon, Eung Kweon Kim, Hans Ulrik Møller, Francis L. Munier, Tim Berger, Walter Lisch
School of Medicine Faculty Publications
PURPOSE: The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is the third edition of the IC3D nomenclature. METHODS: Peer-reviewed publications from 2014 to 2023 were evaluated. The new information was used to update the anatomic classification and each of the 22 standardized templates including the level of evidence for being a corneal dystrophy [from category 1 (most evidence) to category 4 (least evidence)]. RESULTS: Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 ( …
Macrocephaly And Digital Anomalies Expand The Phenotypic Spectrum Of Pgap2 Variants In Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 (Hpmrs3), Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, Bonsu Ku, Syeda Iqra Hussain, Solveig Schulz, Oliver Puk, Saskia Biskup, Jonathan D.J. Labonne, Dilan Wellalage Don, Vijay Gupta, Tae Ik Choi, Saadullah Khan, Naveed Wasif, Yves Lacassie, Lawrence C. Layman, Sibel Aylin Ugur Iseri, Cheol Hee Kim, Hyung Goo Kim
Macrocephaly And Digital Anomalies Expand The Phenotypic Spectrum Of Pgap2 Variants In Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 (Hpmrs3), Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, Bonsu Ku, Syeda Iqra Hussain, Solveig Schulz, Oliver Puk, Saskia Biskup, Jonathan D.J. Labonne, Dilan Wellalage Don, Vijay Gupta, Tae Ik Choi, Saadullah Khan, Naveed Wasif, Yves Lacassie, Lawrence C. Layman, Sibel Aylin Ugur Iseri, Cheol Hee Kim, Hyung Goo Kim
School of Medicine Faculty Publications
Glycosylphosphatidylinositols (GPIs) anchor over 150 proteins as GPI-anchored proteins (GPI-APs) with crucial roles in diverse biological processes. The highly conserved biosynthesis of GPI-APs involves precise steps with at least 21 genes, categorized as PIG and PGAP genes. Pathogenic variants in these genes are linked to human diseases, highlighting the importance of each biosynthesis step. PGAP2 stands out among these genes due to its association with an expanded clinical spectrum of neurodevelopmental disorder (NDD) phenotypes with biallelic pathogenic variants. We present four patients from two families, one consanguineous and the other nonconsanguineous, each displaying distinct clinical presentations, including intellectual disability, hyperphosphatasia, …
Amondys 45 (Casimersen), A Novel Antisense Phosphorodiamidate Morpholino Oligomer: Clinical Considerations For Treatment In Duchenne Muscular Dystrophy, Megan E. Vasterling, Rebecca J. Maitski, Brice A. Davis, Julie E. Barnes, Rucha A. Kelkar, Rachel J. Klapper, Hirni Patel, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi
Amondys 45 (Casimersen), A Novel Antisense Phosphorodiamidate Morpholino Oligomer: Clinical Considerations For Treatment In Duchenne Muscular Dystrophy, Megan E. Vasterling, Rebecca J. Maitski, Brice A. Davis, Julie E. Barnes, Rucha A. Kelkar, Rachel J. Klapper, Hirni Patel, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi
School of Medicine Faculty Publications
AMONDYS 45 (casimersen) is an antisense oligonucleotide therapy used to treat Duchenne muscular dystrophy (DMD), a rare genetic disorder characterized by a mutation in the DMD gene. Symptoms include progressive muscle weakness, respiratory and cardiac complications, and premature death. Casimersen targets a specific mutation in the DMD gene that results in the absence of dystrophin protein, a key structural component of muscle fibers. While there is currently no cure for DMD, exon-skipping therapy works by restoring the reading frame of the mutated gene, allowing the production of a partially functional dystrophin protein. Clinical trials of casimersen have shown promising results …
A Rare Case Of Tricuspid Atresia Absent Pulmonary Valve Diagnosed On Fetal Echocardiography, Wesam Sourour, Shannon K. Powell
A Rare Case Of Tricuspid Atresia Absent Pulmonary Valve Diagnosed On Fetal Echocardiography, Wesam Sourour, Shannon K. Powell
School of Medicine Faculty Publications
• TA absent PV is a rare congenital heart anomaly. • TA absent PV is associated with a poor prognosis. • TA absent PV can be successfully diagnosed on fetal echocardiography.
Protein S Antibody As An Adjunct Therapy For Hemophilia B, Hope P. Wilson, Aliyah Pierre, Ashley L. Paysse, Narender Kumar, Brian C. Cooley, Pratyadipta Rudra, Adrianne W. Dorsey, Diana Polania-Villanueva, Sabyasachi Chatterjee, Maissaa Janbain, Maria C. Velez, Rinku Majumder
Protein S Antibody As An Adjunct Therapy For Hemophilia B, Hope P. Wilson, Aliyah Pierre, Ashley L. Paysse, Narender Kumar, Brian C. Cooley, Pratyadipta Rudra, Adrianne W. Dorsey, Diana Polania-Villanueva, Sabyasachi Chatterjee, Maissaa Janbain, Maria C. Velez, Rinku Majumder
School of Medicine Faculty Publications
ABSTRACT: Hemophilia B (HB) is caused by an inherited deficiency of plasma coagulation factor IX (FIX). Approximately 60% of pediatric patients with HB possess a severe form of FIX deficiency (< 1% FIX activity). Treatment typically requires replacement therapy through the administration of FIX. However, exogenous FIX has a limited functional half-life, and the natural anticoagulant protein S (PS) inhibits activated FIX (FIXa). PS ultimately limits thrombin formation, which limits plasma coagulation. This regulation of FIXa activity by PS led us to test whether inhibiting PS would extend the functional half-life of FIX and thereby prolong FIX-based HB therapy. We assayed clotting times and thrombin generation to measure the efficacy of a PS antibody for increasing FIX activity in commercially obtained plasma and plasma from pediatric patients with HB. We included 11 pediatric patients who lacked additional comorbidities and coagulopathies. In vivo, we assessed thrombus formation in HB mice in the presence of the FIXa ± PS antibody. We found an accelerated rate of clotting in the presence of PS antibody. Similarly, the peak thrombin formed was significantly greater in the presence of the PS antibody, even in plasma from patients with severe HB. Furthermore, HB mice injected with PS antibody and FIX had a 4.5-fold higher accumulation of fibrin at the thrombus induction site compared with mice injected with FIX alone. Our findings imply that a PS antibody would be a valuable adjunct to increase the effectiveness of FIX replacement therapy in pediatric patients who have mild, moderate, and severe HB.
A Cryptic Microdeletion Del(12)(P11.21p11.23) Within An Unbalanced Translocation T(7;12)(Q21.13;Q23.1) Implicates New Candidate Loci For Intellectual Disability And Kallmann Syndrome, Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M. Maas, Yves Lacassie, Soo Hyun Kim, Woo Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol Hee Kim, Lawrence C. Layman, Hyung Goo Kim
A Cryptic Microdeletion Del(12)(P11.21p11.23) Within An Unbalanced Translocation T(7;12)(Q21.13;Q23.1) Implicates New Candidate Loci For Intellectual Disability And Kallmann Syndrome, Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M. Maas, Yves Lacassie, Soo Hyun Kim, Woo Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol Hee Kim, Lawrence C. Layman, Hyung Goo Kim
School of Medicine Faculty Publications
In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation t(7;12)(q22;q24)dn, array comparative genomic hybridization (aCGH) disclosed a cryptic heterozygous 4.7 Mb deletion del(12)(p11.21p11.23), unrelated to the translocation breakpoint. This novel discovery prompted us to consider the possibility that the combination of KS and neurological disorder in this patient could be attributed to gene(s) within this specific deletion at 12p11.21-12p11.23, rather than disrupted or dysregulated genes at the translocation breakpoints. To further support this hypothesis, we expanded our study by screening five candidate genes at both breakpoints of the chromosomal translocation …
Genome Editing For Cystic Fibrosis, Guoshun Wang
Genome Editing For Cystic Fibrosis, Guoshun Wang
School of Medicine Faculty Publications
Cystic fibrosis (CF) is a monogenic recessive genetic disorder caused by mutations in the CF Transmembrane-conductance Regulator gene (CFTR). Remarkable progress in basic research has led to the discovery of highly effective CFTR modulators. Now ~90% of CF patients are treatable. However, these modulator therapies are not curative and do not cover the full spectrum of CFTR mutations. Thus, there is a continued need to develop a complete and durable therapy that can treat all CF patients once and for all. As CF is a genetic disease, the ultimate therapy would be in-situ repair of the genetic lesions in the …
Ablation Of Rare Accessory Pathway From Right Atrial Appendage Diverticulum To Anatomic Left Ventricle In Cc-Tga., Shree Lata Radhakrishnan, Robert Drutel, Cody Williams, Raman Danrad, Kelly Gajewski, Paul A. Lelorier
Ablation Of Rare Accessory Pathway From Right Atrial Appendage Diverticulum To Anatomic Left Ventricle In Cc-Tga., Shree Lata Radhakrishnan, Robert Drutel, Cody Williams, Raman Danrad, Kelly Gajewski, Paul A. Lelorier
School of Medicine Faculty Publications
American College of Cardiology Conference ACC.23, March 4 - 6, 2023, New Orleans, LA
Hereditary Angioedema: Diagnosis, Clinical Implications, And Pathophysiology, Evan S. Sinnathamby, Peter P. Issa, Logan Roberts, Haley Norwood, Kevin Malone, Harshitha Vemulapalli, Shahab Ahmadzadeh, Elyse M. Cornett, Sahar Shekoohi, Alan D. Kaye
Hereditary Angioedema: Diagnosis, Clinical Implications, And Pathophysiology, Evan S. Sinnathamby, Peter P. Issa, Logan Roberts, Haley Norwood, Kevin Malone, Harshitha Vemulapalli, Shahab Ahmadzadeh, Elyse M. Cornett, Sahar Shekoohi, Alan D. Kaye
School of Medicine Faculty Publications
Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a mutation in the C1 esterase inhibitor gene. HAE affects 1/50,000 people worldwide. Three main types of HAE exist: type I, type II, and type III. Type I is characterized by a deficiency in C1-INH. C1-INH is important in the coagulation complement, contact systems, and fibrinolysis. Most HAE cases are type I. Type I and II HAE result from a mutation in the SERPING1 gene, which encodes C1-INH. Formally known as type III HAE is typically an estrogen-dependent or hereditary angioedema with normal C1-INH activity. Current guidelines now recommend subdividing …
The Diagnosis Of Severe Combined Immunodeficiency: Implementation Of The Pidtc 2022 Definitions, Christopher C. Dvorak, Elie Haddad, Jennifer Heimall, Elizabeth Dunn, Morton J. Cowan, Sung-Yun Pai, Neena Kapoor, Lisa Forbes Satter, Rebecca H. Buckley, Richard J. O'Reilly, Sharat Chandra, Jeffrey J. Bednarski, Olatundun Williams, Ahmad Rayes, Theodore B. Moore, Christen L. Ebens, Blachy J. Davila Saldana, Aleksandra Petrovic, Deepak Chellapandian, Geoffrey D. E. Cuvelier, Mark T. Vander Lugt, Emi H. Caywood, Shanmuganathan Chandrakasan, Hesham Eissa, Frederick D. Goldman, Evan Shereck, Victor M. Aquino, Kenneth B. Desantes, Lolie Yu, Et Al
The Diagnosis Of Severe Combined Immunodeficiency: Implementation Of The Pidtc 2022 Definitions, Christopher C. Dvorak, Elie Haddad, Jennifer Heimall, Elizabeth Dunn, Morton J. Cowan, Sung-Yun Pai, Neena Kapoor, Lisa Forbes Satter, Rebecca H. Buckley, Richard J. O'Reilly, Sharat Chandra, Jeffrey J. Bednarski, Olatundun Williams, Ahmad Rayes, Theodore B. Moore, Christen L. Ebens, Blachy J. Davila Saldana, Aleksandra Petrovic, Deepak Chellapandian, Geoffrey D. E. Cuvelier, Mark T. Vander Lugt, Emi H. Caywood, Shanmuganathan Chandrakasan, Hesham Eissa, Frederick D. Goldman, Evan Shereck, Victor M. Aquino, Kenneth B. Desantes, Lolie Yu, Et Al
School of Medicine Faculty Publications
Background: Shearer et al in 2014 articulated well-defined criteria for the diagnosis and classification of severe combined immunodeficiency (SCID) as part of the Primary Immune Deficiency Treatment Consortium's (PIDTC's) prospective and retrospective studies of SCID. Objective: Because of the advent of newborn screening for SCID and expanded availability of genetic sequencing, revision of the PIDTC 2014 Criteria was needed. Methods: We developed and tested updated PIDTC 2022 SCID Definitions by analyzing 379 patients proposed for prospective enrollment into Protocol 6901, focusing on the ability to distinguish patients with various SCID subtypes. Results: According to PIDTC 2022 Definitions, 18 of 353 …