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Book ; Online ; E-Book: Cassidy and Allanson's management of genetic syndromes

Allanson, Judith E. / Carey, John C. / Battaglia, Agatino / Viskochil, David H. / Cassidy, Suzanne B.

2021

Title variant	Management of genetic syndromes
Author's details	edited by John C. Carey, Agatino Battaglia, David Viskochil, Suzanne B. Cassidy
Keywords	Electronic books ; Hereditary Diseases / diagnosis ; Hereditary Diseases / therapy ; Abnormalities, Multiple / diagnosis ; Abnormalities, Multiple / therapy
Language	English
Size	1 Online-Ressource (xxxv, 1068 Seiten), Illustrationen
Edition	Fourth edition
Publisher	Wiley Blackwell
Publishing place	Hoboken, NJ
Publishing country	United States
Document type	Book ; Online ; E-Book
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
HBZ-ID	HT020617102
ISBN	978-1-119-43264-7 ; 9781119432678 ; 1-119-43264-2 ; 1119432677
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Reflections on observing faces in art.

Battaglia, Agatino / Carey, John C

American journal of medical genetics. Part C, Seminars in medical genetics

2021 Volume 187, Issue 2, Page(s) 144–147

Abstract: The experience of art provides the visitor of a museum or gallery with the opportunity to contemplate and share the human condition both from the physical and psychological point of view. Because of the accessibility and the number of museums throughout ... ...

Abstract	The experience of art provides the visitor of a museum or gallery with the opportunity to contemplate and share the human condition both from the physical and psychological point of view. Because of the accessibility and the number of museums throughout Europe, classical European art as both sculpture and painting, affords the viewer the opportunity to experience life from one part of the world over centuries of history. These museums occasionally exhibit pieces showing a person with a human disorder and physical differences. On viewing such artwork, practitioners of health care, especially dysmorphologists, usually find themselves observing such pieces within the context of their practice. In this essay, the coauthors reflect on paintings and sculptures which remind us of our patients with similar physical and medical conditions. Various works of art also provide the opportunity to observe and view the human face from many vantage points and times in history. Several paintings are cited to illustrate the central themes of the Commentary: the human circumstance of disease and differences and the skill of observing and describing the human face.
MeSH term(s)	Europe ; Humans ; Museums ; Paintings ; Sculpture
Language	English
Publishing date	2021-05-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.31912
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Article ; Online: The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.

Battaglia, Agatino / Carey, John C

American journal of medical genetics. Part A

2021 Volume 185, Issue 9, Page(s) 2748–2755

Abstract: Since Hirschhorn's description in 1961, the history and chronology of the clinical, cytogenetic, and molecular characterization of Wolf-Hirschhorn syndrome (WHS) elegantly demonstrates the remarkable advances in genetic technology over the last six ... ...

Abstract	Since Hirschhorn's description in 1961, the history and chronology of the clinical, cytogenetic, and molecular characterization of Wolf-Hirschhorn syndrome (WHS) elegantly demonstrates the remarkable advances in genetic technology over the last six decades that have paralleled the delineation of the phenotype. After mention in the Human Chromosome Newsletter of a child with a visible deletion of the top of a B chromosome group, 4-5, Hirschhorn and colleagues companioned their report with that of Wolf et al. in Humangenetik in 1965, and the condition was recognized and named. The 1960-1970s witnessed the description of many of the now classic chromosome disorders, including WHS, while HRB allowed for the recognition of chromosome syndromes with smaller deletions/duplications. FISH probes, developed in the next two decades, enabled the characterization of the critical region of WHS and improved clinical diagnosis with subtelomeric probes. Cytogenomic microarray in the early-mid 2000s led to both improved diagnosis of WHS patients and documentation of microdeletions of <5 megabases, helping to characterize the critical regions for specific component phenotypes (e.g., seizures, face). Recently exome sequencing technology has led to the discovery of WHS patients with WHSC1 loss of function variants, displaying some cardinal features of the phenotype (face, growth, and developmental delay).
MeSH term(s)	Chromosome Aberrations ; Cytodiagnosis/methods ; Genomics/methods ; Humans ; Phenotype ; Wolf-Hirschhorn Syndrome/genetics ; Wolf-Hirschhorn Syndrome/pathology
Language	English
Publishing date	2021-05-18
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62341
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Article ; Online: Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals.

Battaglia, Agatino / Lortz, Amanda / Carey, John C

American journal of medical genetics. Part A

2021 Volume 185, Issue 6, Page(s) 1794–1802

Abstract: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene disorder, clinically delineated by prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The disorder is caused by partial loss of material ... ...

Abstract	Wolf-Hirschhorn syndrome (WHS) is a contiguous gene disorder, clinically delineated by prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The disorder is caused by partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.3). Although more than 300 persons with WHS have been reported in the literature, there is sparse, if any, long-term follow-up of these individuals and thus little knowledge about course and potential further complications and health risks during adulthood and advanced age. This study attempted to assess medical conditions and function of adult individuals with WHS. It was one component of a two-part investigation on adults with WHS. The other part of the study is the patient-reported outcomes study reported elsewhere. About 35 individuals with WHS (26 females; nine males), aged between 19 and 55 years were recruited. About 25 individuals were personally observed at the IRCCS Stella Maris Foundation by A.B. and followed up between 5 and 20 years; and 10 were recruited from the 4p-Support Group, The United States. Of note, 23/35 (66%) are close to total care. About 11 out of 35 (31%) were partly self-independent, requiring supervision on certain daily routines, and 1 out of 35 (3%) was fully independent. However, a positive perspective is given by the overall good health enjoyed by the 66% of our cohort of individuals. Overall, quality of life and level of function into adulthood appear to be less critical than anticipated from previous studies.
MeSH term(s)	Adult ; Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 4/genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/epidemiology ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Middle Aged ; Phenotype ; Quality of Life ; Seizures/epidemiology ; Seizures/genetics ; Seizures/pathology ; Wolf-Hirschhorn Syndrome/epidemiology ; Wolf-Hirschhorn Syndrome/genetics ; Wolf-Hirschhorn Syndrome/pathology ; Young Adult
Language	English
Publishing date	2021-03-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62176
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Article ; Online: Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith-Magenis syndrome by Vieira and colleagues.

Battaglia, Agatino

American journal of medical genetics. Part A

2011 Volume 155A, Issue 5, Page(s) 986–987

MeSH term(s)	Adolescent ; Diagnosis, Differential ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Smith-Magenis Syndrome/diagnosis ; Smith-Magenis Syndrome/genetics
Language	English
Publishing date	2011-04-04
Publishing country	United States
Document type	Case Reports ; Comment ; Journal Article
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.33956
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Article ; Online: Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study.

Carey, John C / Lortz, Amanda / Mendel, Alyssa / Battaglia, Agatino

American journal of medical genetics. Part A

2021 Volume 185, Issue 7, Page(s) 2065–2069

Abstract: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene disorder consisting of prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The condition is caused by a partial loss of material from the ... ...

Abstract	Wolf-Hirschhorn syndrome (WHS) is a contiguous gene disorder consisting of prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The condition is caused by a partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.3). While there are many reports of individuals with WHS, useful data on long-term survival and life status of adults with the syndrome are very limited. There are only 11 reports of individuals over the age of 18 years in the literature. Establishing the medical manifestations of adults with WHS would be helpful in establishing appropriate health supervision guidelines. This study was one component of a two-part investigation on adults with WHS. This patient-reported outcomes study (PROS) was accomplished by using the registry of rare diseases at Sanford Research, Coordination of Rare Diseases (CoRDS)at Sanford. Thirty family members or caretakers of 30 adults with WHS/4p- entered into the CoRDS registry and completed some or all of the survey data. Twelve caretakers completed the recently-added survey on activities of daily living. Two of the individuals with WHS were partly independent while 10 required total care. The results provide novel information on daily life and independence in adults with WHS. Importantly, the majority of caretakers reported that the adults were in good health. The data from both parts of the study will contribute to our knowledge of the natural history of the syndrome and guide in establishing appropriate health supervision guidelines for adults with WHS.
MeSH term(s)	Activities of Daily Living ; Adolescent ; Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 4/genetics ; Female ; Humans ; Intellectual Disability/epidemiology ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Middle Aged ; Patient Reported Outcome Measures ; Phenotype ; Pregnancy ; Seizures/epidemiology ; Seizures/genetics ; Seizures/pathology ; Wolf-Hirschhorn Syndrome/epidemiology ; Wolf-Hirschhorn Syndrome/genetics ; Wolf-Hirschhorn Syndrome/pathology ; Young Adult
Language	English
Publishing date	2021-05-05
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62220
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Article ; Online: Seizures in trisomy 18: Prevalence, description, and treatment.

Jaspersen, Sue L / Bruns, Deborah A / Candee, Meghan S / Battaglia, Agatino / Carey, John C / Fishler, Kristen P

American journal of medical genetics. Part A

2023 Volume 191, Issue 4, Page(s) 1026–1037

Abstract: Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and ... ...

Abstract	Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and parents is the occurrence and treatment of seizures. Previously published surveillance guidelines for this condition have not addressed seizure management. Using parent-reported data collected as part of the Tracking Rare Incidence Syndromes project, we report on the prevalence, course, and management of seizures in individuals with trisomy 18. Twenty-eight percent (52/186) of individuals diagnosed with trisomy 18 in our retrospective cohort experienced generalized, focal, or mixed seizures at some point in their lifetime. For many individuals, seizures were effectively managed by broad-spectrum anti-seizure medications. Correlation analysis showed that focal and generalized seizures were more likely to occur in individuals who had previously experienced infantile spasms or central apnea. Electroencephalogram testing should be considered as part of a standard screening approach in individuals with trisomy 18 to enable early diagnosis and treatment of seizures. An international registry that incorporates parent-reported and clinical data for patients with trisomy 18 may facilitate ongoing research and recruitment into clinical trials for seizure management.
MeSH term(s)	Child ; Infant, Newborn ; Humans ; Anticonvulsants/therapeutic use ; Trisomy 18 Syndrome/drug therapy ; Prevalence ; Retrospective Studies ; Spasms, Infantile
Chemical Substances	Anticonvulsants
Language	English
Publishing date	2023-01-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63113
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Article ; Online: Morphological parameters of myopic choroidal neovascularization as predictive factors of anti-VEGF treatment response.

Castellino, Niccolò / Battaglia Parodi, Maurizio / Russo, Andrea / Toro, Mario Damiano / Fallico, Matteo / Bonfiglio, Vincenza / Maugeri, Agatino Davide / Avitabile, Teresio / Longo, Antonio

Scientific reports

2022 Volume 12, Issue 1, Page(s) 10435

Abstract: The objective of this prospective study was to investigate the morphological changes of myopic choroidal neovascularization (mCNV) after treatment with anti-vascular endothelial growth factor and to identify potential features predictive of the final ... ...

Abstract	The objective of this prospective study was to investigate the morphological changes of myopic choroidal neovascularization (mCNV) after treatment with anti-vascular endothelial growth factor and to identify potential features predictive of the final BCVA. OCT and OCTA features were evaluated at baseline and at 1, 6 and 12 months. Parameters investigated were the maturity pattern, presence of mCNV OCT activity signs, subretinal fibrosis and mCNV area. Forty patients (41 eyes) were included in the study. At the final visit, after a mean of 3.1 ± 1.4 injections, BCVA had improved significantly (p = 0.009) and subretinal hyperreflective exudation, subretinal fluid and intraretinal cysts nearly disappeared at 12 months. At baseline, 20 eyes had an immature CNV that were smaller, required less injections (2.5 ± 1.2 vs 3.8 ± 1.4, p = 0.002), they completely regressed in seven eyes and achieved a better BCVA (0.14 ± 0.15 vs 0.40 ± 0.26 logMAR, p < 0.001) when compared to mature CNV. Subretinal fibrosis developed in 19 eyes (46.3%) with lower final BCVA than eyes without fibrosis (0.19 ± 0.24 vs 0.38 ± 0.22 logMAR, p = 0.012). Baseline immature pattern (p = 0.005) and baseline BCVA (p < 0.001) were predictive of final BCVA. Multimodal imaging is useful to define mCNV changes during treatment. OCTA provides prognostic information which cannot achieved by other imaging techniques.
MeSH term(s)	Angiogenesis Inhibitors/therapeutic use ; Antibodies, Monoclonal/therapeutic use ; Choroidal Neovascularization/diagnostic imaging ; Choroidal Neovascularization/drug therapy ; Fibrosis ; Fluorescein Angiography/methods ; Humans ; Intravitreal Injections ; Myopia, Degenerative/complications ; Myopia, Degenerative/diagnosis ; Myopia, Degenerative/drug therapy ; Prospective Studies ; Retrospective Studies ; Tomography, Optical Coherence/methods ; Vascular Endothelial Growth Factor A ; Vascular Endothelial Growth Factors ; Visual Acuity
Chemical Substances	Angiogenesis Inhibitors ; Antibodies, Monoclonal ; Vascular Endothelial Growth Factor A ; Vascular Endothelial Growth Factors
Language	English
Publishing date	2022-06-21
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-14287-7
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Article ; Online: The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

Battaglia Agatino

Orphanet Journal of Rare Diseases, Vol 3, Iss 1, p

2008 Volume 30

Abstract: Abstract The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence at birth is estimated at 1 in 30,000 ...

Abstract	Abstract The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence at birth is estimated at 1 in 30,000 with a sex ratio of almost 1:1. Developmental delay and intellectual disability affect all individuals with inv dup(15) and are usually moderate to profound. Expressive language is absent or very poor and often echolalic. Comprehension is very limited and contextual. Intention to communicate is absent or very limited. The distinct behavioral disorder shown by children and adolescents has been widely described as autistic or autistic-like. Epilepsy with a wide variety of seizure types can occur in these individuals, with onset between 6 months and 9 years. Various EEG abnormalities have been described. Muscle hypotonia is observed in almost all individuals, associated, in most of them, with joint hyperextensibility and drooling. Facial dysmorphic features are absent or subtle, and major malformations are rare. Feeding difficulties are reported in the newborn period. Chromosome region 15q11q13, known for its instability, is highly susceptible to clinically relevant genomic rearrangements, such as supernumerary marker chromosomes formed by the inverted duplication of proximal chromosome 15. Inv dup(15) results in tetrasomy 15p and partial tetrasomy 15q. The large rearrangements, containing the Prader-Willi/Angelman syndrome critical region (PWS/ASCR), are responsible for the inv dup(15) or idic(15) syndrome. Diagnosis is achieved by standard cytogenetics and FISH analysis, using probes both from proximal chromosome 15 and from the PWS/ASCR. Microsatellite analysis on parental DNA or methylation analysis on the proband DNA, are also needed to detect the parent-of-origin of the inv dup(15) chromosome. Array CGH has been shown to provide a powerful approach for identifying and detecting the extent of the duplication. The possible occurrence of double supernumerary ...
Keywords	Medicine ; R
Subject code	590
Language	English
Publishing date	2008-11-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
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Article ; Online: Further characterization of NFIB-associated phenotypes: Report of two new individuals.

Marinella, Gemma / Conti, Eugenia / Buchignani, Bianca / Sgherri, Giada / Pasquariello, Rosa / Giordano, Flavio / Cristofani, Paola / Battini, Roberta / Battaglia, Agatino

American journal of medical genetics. Part A

2022 Volume 191, Issue 2, Page(s) 540–545

Abstract: Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23-p22.3 containing NFIB. ... ...

Abstract	Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23-p22.3 containing NFIB. The first is a 7-year 9-month old boy with developmental delays, ID, definite facial anomalies, and brain and spinal cord magnetic resonance imaging findings including periventricular nodular heterotopia, hypoplasia of the corpus callosum, arachnoid cyst in the left middle cranial fossa, syringomyelia in the thoracic spinal cord and distal tract of the conus medullaris, and a stretched appearance of the filum terminale. The second is a 32-year-old lady (the proband' mother) with dysmorphic features, and a history of learning disability, hypothyroidism, poor growth, left inguinal hernia, and panic attacks. Her brain magnetic resonance imaging findings include a dysmorphic corpus callosum, and a small cyst in the left choroidal fissure that marks the hippocampal head. Array-based comparative genomic hybridization identified, in both, a 232 Kb interstitial deletion at 9p23p22.3 including several exons of NFIB and no other known genes. Our two individuals add to the knowledge of this rare disorder through the addition of new brain and spinal cord MRI findings and dysmorphic features. We propose that NFIB haploinsufficiency causes a clinically recognizable malformation-ID syndrome.
MeSH term(s)	Female ; Humans ; Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Brain/pathology ; Chromosome Deletion ; Comparative Genomic Hybridization ; Corpus Callosum/pathology ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; NFI Transcription Factors/genetics ; Phenotype ; Male ; Child ; Adult
Chemical Substances	NFI Transcription Factors ; NFIB protein, human
Language	English
Publishing date	2022-11-02
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63018
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