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Article: Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in

Cole, Sarah / Giri, Neelam / Alter, Blanche P / Gianferante, D Matthew

2022 Volume 13, Page(s) 914141

Abstract: Introduction: ...

Abstract	Introduction:
Language	English
Publishing date	2022-07-18
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2022.914141
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Article ; Online: Serum alpha fetoprotein levels in Fanconi anaemia.

Alter, Blanche P / Giri, Neelam

British journal of haematology

2018 Volume 184, Issue 6, Page(s) 1074–1076

MeSH term(s)	Fanconi Anemia/blood ; Humans ; alpha-Fetoproteins/metabolism
Chemical Substances	alpha-Fetoproteins
Language	English
Publishing date	2018-08-20
Publishing country	England
Document type	Letter ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.15517
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Article ; Online: Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.

Altintas, Burak / Giri, Neelam / McReynolds, Lisa J / Best, Ana / Alter, Blanche P

Haematologica

2023 Volume 108, Issue 1, Page(s) 69–82

Abstract: Fanconi anemia (FA) is caused by pathogenic variants in the FA/BRCA DNA repair pathway genes, and is characterized by congenital abnormalities, bone marrow failure (BMF) and increased cancer risk. We conducted a genotype-phenotype and outcomes study of ... ...

Abstract	Fanconi anemia (FA) is caused by pathogenic variants in the FA/BRCA DNA repair pathway genes, and is characterized by congenital abnormalities, bone marrow failure (BMF) and increased cancer risk. We conducted a genotype-phenotype and outcomes study of 203 patients with FA in our cohort. We compared across the genes, FA/BRCA DNA repair pathways (upstream, ID complex and downstream), and type of pathogenic variants (hypomorphic or null). We explored differences between the patients evaluated in our clinic (clinic cohort) and those who provided data remotely (field cohort). Patients with variants in upstream complex pathway had less severe phenotype [lacked VACTERL-H (Vertebral, Anal, Cardiac, Trachea-esophageal fistula, Esophageal/duodenal atresia, Renal, Limb, Hydrocephalus) association and/or PHENOS (Pigmentation, small-Head, small-Eyes, Neurologic, Otologic, Short stature) features]. ID complex was associated with VACTERL-H. The clinic cohort had more PHENOS features than the field cohort. PHENOS was associated with increased risk of BMF, and VACTERL-H with hypothyroidism. The cumulative incidence of severe BMF was 70%, solid tumors (ST) 20% and leukemia 6.5% as the first event. Head and neck and gynecological cancers were the most common ST, with further increased risk after hematopoietic cell transplantation. Among patients with FANCA, variants in exons 27-30 were associated with higher frequency of ST. Overall median survival was 37 years; patients with leukemia or FANCD1/BRCA2 variants had poorest survival. Patients with variants in the upstream complex had better survival than ID or downstream complex (p=0.001 and 0.016, respectively). FA is phenotypically and genotypically heterogeneous; detailed characterization provides new insights towards understanding this complex syndrome and guiding clinical management.
MeSH term(s)	United States ; Humans ; Fanconi Anemia/genetics ; Fanconi Anemia/therapy ; National Cancer Institute (U.S.) ; Phenotype ; Neoplasms/genetics ; Genotype ; Leukemia
Language	English
Publishing date	2023-01-01
Publishing country	Italy
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Research Support, N.I.H., Extramural
ZDB-ID	2333-4
ISSN	1592-8721 ; 0017-6567 ; 0390-6078
ISSN (online)	1592-8721
ISSN	0017-6567 ; 0390-6078
DOI	10.3324/haematol.2021.279981
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Article ; Online: Fanconi anaemia: A syndrome with distinct subgroups.

Alter, Blanche P / Giri, Neelam / McReynolds, Lisa J / Altintas, Burak

British journal of haematology

2022 Volume 197, Issue 4, Page(s) 467–474

Abstract: Fanconi anaemia (FA) is an inherited bone marrow failure syndrome (IBMFS) with a high cancer predisposition rate. Traditional diagnoses are made before age 10 years due to bone marrow failure (BMF) and characteristic birth defects. Up to 10% of published ...

Abstract	Fanconi anaemia (FA) is an inherited bone marrow failure syndrome (IBMFS) with a high cancer predisposition rate. Traditional diagnoses are made before age 10 years due to bone marrow failure (BMF) and characteristic birth defects. Up to 10% of published cases were adults at diagnosis. We hypothesized that FA subgroups diagnosed in childhood are distinct from those diagnosed as adults. We classified patients by age at diagnosis of FA as FA-PED (<18 years) or FA-ADULT (≥18 years). The National Cancer Institute IBMFS cohort included 178 FA-PED and 26 FA-ADULT cases. We compared various features; the cumulative incidences of first adverse events (severe BMF leading to haematopoietic cell transplant or death, leukaemia, or solid tumours) were compared using competing-risk analyses. FA-ADULT lacked the 'typical' FA features (birth defects and early-onset BMF or leukaemia), were mainly female, had more patients with FANCA genotype, and had or developed more head and neck squamous-cell carcinoma (HNSCC) and/or gynaecological cancers compared with FA-PED, albeit at similar ages in both subgroups. FA-ADULT is a distinct subgroup that remained unrecognized during childhood. Centres for adult haematology-oncology should consider FA diagnosis in patients with early-onset HNSCC or gynaecological cancer with or without haematologic problems.
MeSH term(s)	Adult ; Bone Marrow Failure Disorders ; Child ; Congenital Bone Marrow Failure Syndromes ; Fanconi Anemia/complications ; Fanconi Anemia/diagnosis ; Fanconi Anemia/genetics ; Female ; Head and Neck Neoplasms ; Hematopoietic Stem Cell Transplantation ; Humans ; Leukemia ; Squamous Cell Carcinoma of Head and Neck
Language	English
Publishing date	2022-02-22
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.18091
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Article ; Online: Clinical profile of Neurosurgical Patients Admitted into the Intensive Care Unit of Rural Tertiary Care Center

Praveen Kumar Giri / Prem Prasad Panta / Neelam Khadka

Journal of Karnali Academy of Health Sciences, Vol 3, Iss

2021 Volume 3

Abstract: Background:Intensive Care Unit (ICU) is a special department of a tertiary hospital for patients with the most severe and life‐threatening conditions which will often require constant and close intensive monitoring, support from specialist equipment and ... ...

Abstract	Background:Intensive Care Unit (ICU) is a special department of a tertiary hospital for patients with the most severe and life‐threatening conditions which will often require constant and close intensive monitoring, support from specialist equipment and medications in order to maintain normal physiological functions. Teaching Hospital of Karnali Academy of Health Science (KAHS) is the largest tertiary institution in the mid-western region of Nepal providing specialist care. This study will provide information about the clinical profile and outcome of the neurosurgical patient admitted in our ICU. Methods:This is a hospital based secondary data analysis carried out in the teaching hospital of KAHS, Jumla, Nepal. This study was conductedbetween March 2019 to June 2020. Data were retrieved from ICU record book and which had included demographic characteristics, diagnosis on admission, reason for admission, duration of admission, medical/surgical specialty requesting admission, nature of interventions, and outcome of patients admitted. Results:A total of 31 patients were admitted into the ICU, there were 74.2%(n=23) males and 25.8%(n=8) females giving a male to female ratio of 3:1. The ages ranged from 3 month to 70 years . The age group of 15−59 years accounted for highest 51.6% (n=16) of all the ICU admissions. Among all cases, highest 64.5%(n=20) cases were presented from Juma. Out of the 31 admissions 77.4% (n=24) was due to head injury ,while other neurosurgical cases (Stroke, spinal cord injury) accounted 22.6%(n=7). Further dividing head injuries, highest 38.7% (n=12) is due to severe head injury, 22.6% (n=7) moderate head injury and 16.1% (n=5) were mild head injury. Conclusion:Head injuries are the highest number of neurosurgical admissions into the ICU with relatively high mortality. Developing a viable trauma team and well equipped neurosurgical ICU with adequately trained staff will help to improve the outcome of patients.
Keywords	Head Injury ; Neurosurgery ; Intensive Care Unit ; Rural ; Nepal ; Medicine (General) ; R5-920
Language	English
Publishing date	2021-01-01T00:00:00Z
Publisher	Karnali Academy of Health Sciences
Document type	Article ; Online
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Article ; Online: Clinical profile of Neurosurgical Patients Admitted into the Intensive Care Unit of Rural Tertiary Care Center

Praveen Kumar Giri / Prem Prasad Panta / Neelam Khadka

Journal of Karnali Academy of Health Sciences, Vol 3, Iss

2021 Volume 3

Abstract	Background:Intensive Care Unit (ICU) is a special department of a tertiary hospital for patients with the most severe and life‐threatening conditions which will often require constant and close intensive monitoring, support from specialist equipment and medications in order to maintain normal physiological functions. Teaching Hospital of Karnali Academy of Health Science (KAHS) is the largest tertiary institution in the mid-western region of Nepal providing specialist care. This study will provide information about the clinical profile and outcome of the neurosurgical patient admitted in our ICU. Methods:This is a hospital based secondary data analysis carried out in the teaching hospital of KAHS, Jumla, Nepal. This study was conductedbetween March 2019 to June 2020. Data were retrieved from ICU record book and which had included demographic characteristics, diagnosis on admission, reason for admission, duration of admission, medical/surgical specialty requesting admission, nature of interventions, and outcome of patients admitted. Results:A total of 31 patients were admitted into the ICU, there were 74.2%(n=23) males and 25.8%(n=8) females giving a male to female ratio of 3:1. The ages ranged from 3 month to 70 years . The age group of 15−59 years accounted for highest 51.6% (n=16) of all the ICU admissions. Among all cases, highest 64.5%(n=20) cases were presented from Juma. Out of the 31 admissions 77.4% (n=24) was due to head injury ,while other neurosurgical cases (Stroke, spinal cord injury) accounted 22.6%(n=7). Further dividing head injuries, highest 38.7% (n=12) is due to severe head injury, 22.6% (n=7) moderate head injury and 16.1% (n=5) were mild head injury. Conclusion:Head injuries are the highest number of neurosurgical admissions into the ICU with relatively high mortality. Developing a viable trauma team and well equipped neurosurgical ICU with adequately trained staff will help to improve the outcome of patients.
Keywords	Head Injury ; Neurosurgery ; Intensive Care Unit ; Rural ; Nepal ; Medicine (General) ; R5-920
Language	English
Publishing date	2021-01-01T00:00:00Z
Publisher	Karnali Academy of Health Sciences
Document type	Article ; Online
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Article ; Online: Gynaecological and reproductive health of women with telomere biology disorders.

Giri, Neelam / Alter, Blanche P / Savage, Sharon A / Stratton, Pamela

British journal of haematology

2021 Volume 193, Issue 6, Page(s) 1238–1246

Abstract: Reproductive health may be adversely impacted in women with dyskeratosis congenita (DC) and related telomere biology disorders (TBD). We evaluated gynaecological problems, fertility, and pregnancy outcomes in 39 females aged 10-81 years who were followed ...

Abstract	Reproductive health may be adversely impacted in women with dyskeratosis congenita (DC) and related telomere biology disorders (TBD). We evaluated gynaecological problems, fertility, and pregnancy outcomes in 39 females aged 10-81 years who were followed longitudinally in our DC/TBD cohort. Twenty-six had bone marrow failure and 12 underwent haematopoietic cell transplantation. All attained menarche at a normal age. Thirteen women reported menorrhagia; ten used hormonal contraception to reduce bleeding. Nine experienced natural normal-aged menopause. Gynaecological problems (endometriosis = 3, pelvic varicosities = 1, cervical intraepithelial neoplasia = 1, and uterine prolapse = 2) resulted in surgical menopause in seven. Twenty-five of 26 women attempting fertility carried 80 pregnancies with 49 (61%) resulting in livebirths. Ten (38%) women experienced 28 (35%) miscarriages, notably recurrent pregnancy loss in five (19%). Preeclampsia (n = 6, 24%) and progressive cytopenias (n = 10, 40%) resulted in maternal-fetal compromise, including preterm (n = 5) and caesarean deliveries (n = 18, 37%). Gynaecological/reproductive problems were noted mainly in women with autosomal-dominant inheritance; others were still young or died early. Although women with TBDs had normal menarche, fertility, and menopause, gynaecological problems and pregnancy complications leading to caesarean section, preterm delivery, or transfusion support were frequent. Women with TBDs will benefit from multidisciplinary, coordinated care by haematology, gynaecology and maternal-fetal medicine.
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Dyskeratosis Congenita/epidemiology ; Dyskeratosis Congenita/genetics ; Female ; Fertility ; Humans ; Middle Aged ; Pre-Eclampsia/epidemiology ; Pre-Eclampsia/genetics ; Pregnancy ; Premature Birth/epidemiology ; Premature Birth/genetics ; Reproductive Health ; Uterine Diseases/epidemiology ; Uterine Diseases/genetics
Language	English
Publishing date	2021-05-21
Publishing country	England
Document type	Clinical Trial ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.17545
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Article ; Online: The incidence and spectrum of congenital hand differences in patients with Fanconi anaemia: analysis of 48 patients.

Bourke, Grainne / Wilks, Daniel / Kinsey, Sally / Feltbower, Richard G / Giri, Neelam / Alter, Blanche P

The Journal of hand surgery, European volume

2022 Volume 47, Issue 7, Page(s) 711–715

Abstract: We analysed the spectrum of congenital hand differences in a cohort of patients with Fanconi anaemia (FA). Data of 48 FA patients at the National Cancer Institute were reviewed focusing on age at diagnosis, type and severity of limb difference and any ... ...

Abstract	We analysed the spectrum of congenital hand differences in a cohort of patients with Fanconi anaemia (FA). Data of 48 FA patients at the National Cancer Institute were reviewed focusing on age at diagnosis, type and severity of limb difference and any potential association with other known clinical anomalies that are part of the FA phenotype, specifically VACTERL-H and PHENOS. Twenty-eight patients had an upper limb difference, which always included thumb hypoplasia. Twenty-three patients had bilateral upper limb differences, including varying combinations and severities of thumb hypoplasia, radial dysplasia and thumb duplication. Patients with a limb difference were diagnosed at a younger age (<2 years: 15/28 with limb anomaly versus 4/20 without a limb anomaly). However, 7/28 with limb anomalies, usually thumb hypoplasia, were not diagnosed until after 6 years of age. This study demonstrates the broad spectrum of radial ray anomalies within the FA phenotype along with the possibility of either unilateral or bilateral upper limb differences and adds further merit to consideration of screening for FA in all cases of radial ray anomaly.
MeSH term(s)	Fanconi Anemia/complications ; Fanconi Anemia/diagnosis ; Fanconi Anemia/epidemiology ; Hand Deformities ; Humans ; Incidence ; Thumb/abnormalities
Language	English
Publishing date	2022-03-31
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2272801-6
ISSN	2043-6289 ; 1753-1934
ISSN (online)	2043-6289
ISSN	1753-1934
DOI	10.1177/17531934221087521
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Article ; Online: Melatonin attenuates radiofrequency radiation (900 MHz)-induced oxidative stress, DNA damage and cell cycle arrest in germ cells of male Swiss albino mice.

Pandey, Neelam / Giri, Sarbani

Toxicology and industrial health

2018 Volume 34, Issue 5, Page(s) 315–327

Abstract: Increasing male infertility of unknown aetiology can be associated with environmental factors. Extensive use of mobile phones has exposed the general population to unprecedented levels of radiofrequency radiations (RFRs) that may adversely affect male ... ...

Abstract	Increasing male infertility of unknown aetiology can be associated with environmental factors. Extensive use of mobile phones has exposed the general population to unprecedented levels of radiofrequency radiations (RFRs) that may adversely affect male reproductive health. Therefore, the present study investigated the effect of RFR Global System for Mobile communication (GSM) type, 900 MHz and melatonin supplementation on germ cell development during spermatogenesis. Swiss albino mice were divided into four groups. One group received RFR exposure for 3 h twice/day for 35 days and the other group received the same exposure but with melatonin ( N-acetyl-5-methoxytryptamine) (MEL; 5 mg/kg bw/day). Two other groups received only MEL or remain unexposed. Sperm head abnormality, total sperm count, biochemical assay for lipid peroxides, reduced glutathione, superoxide dismutase activity and testis histology were evaluated. Additionally, flow cytometric evaluation of germ cell subtypes and comet assay were performed in testis. Extensive DNA damage in germ cells of RFR-exposed animals along with arrest in pre-meiotic stages of spermatogenesis eventually leading to low sperm count and sperm head abnormalities were observed. Furthermore, biochemical assays revealed excess free radical generation resulting in histological and morphological changes in testis and germ cells morphology, respectively. However, these effects were either diminished or absent in RFR-exposed animals supplemented with melatonin. Hence, it can be concluded that melatonin inhibits pre-meiotic spermatogenesis arrest in male germ cells through its anti-oxidative potential and ability to improve DNA reparative pathways, leading to normal sperm count and sperm morphology in RFR-exposed animals.
MeSH term(s)	Animals ; Antioxidants/pharmacology ; Cell Cycle Checkpoints/drug effects ; Cell Cycle Checkpoints/radiation effects ; Cell Phone ; Comet Assay ; DNA Damage/drug effects ; DNA Damage/radiation effects ; Disease Models, Animal ; Germ Cells/drug effects ; Germ Cells/radiation effects ; Glutathione/metabolism ; Infertility, Male/chemically induced ; Infertility, Male/drug therapy ; Male ; Melatonin/pharmacology ; Mice ; Oxidative Stress/drug effects ; Oxidative Stress/radiation effects ; Radio Waves/adverse effects ; Spermatogenesis/drug effects ; Superoxide Dismutase/metabolism
Chemical Substances	Antioxidants ; Superoxide Dismutase (EC 1.15.1.1) ; Glutathione (GAN16C9B8O) ; Melatonin (JL5DK93RCL)
Language	English
Publishing date	2018-03-21
Publishing country	England
Document type	Journal Article
ZDB-ID	56831-4
ISSN	1477-0393 ; 0748-2337
ISSN (online)	1477-0393
ISSN	0748-2337
DOI	10.1177/0748233718758092
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Article: Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2).

McReynolds, Lisa J / Biswas, Kajal / Giri, Neelam / Sharan, Shyam K / Alter, Blanche P

Cancer genetics

2021 Volume 258-259, Page(s) 101–109

Abstract: Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome and a cancer predisposition disorder. Cancers in FA include acute leukemia and solid tumors; the most frequent solid tumor is head and neck squamous cell carcinoma. FA is a ... ...

Abstract	Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome and a cancer predisposition disorder. Cancers in FA include acute leukemia and solid tumors; the most frequent solid tumor is head and neck squamous cell carcinoma. FA is a primarily autosomal recessive disorder. Several of the genes in which biallelic pathogenic variants cause FA are also autosomal monoallelic cancer predisposition genes e.g. FANCD1 (BRCA2) and FANCN (PALB2). We observed that patients with FA due to biallelic or homozygous pathogenic variants in FANCD1 and FANCN have a unique cancer association. We curated published cases plus our NCI cohort cases, including 71 patients in the FANCD1 group (94 cancers and 69 variants) and 16 patients in the FANCN group (23 cancers and 20 variants). Only patients in FANCD1 and FANCN groups had one or more of these tumors: brain tumors (primarily medulloblastoma), Wilms tumor and neuroblastoma; this is a genotype-specific cancer combination of tumors of embryonal origin. Acute leukemias, seen in all FA genotypes, also occurred in FANCD1 and FANCN group patients at young ages. In silico predictions of pathogenicity for FANCD1 variants were compared with results from a mouse embryonic stem cell-based functional assay. Patients with two null FANCD1 variants did not have an increased frequency of cancer nor earlier onset of cancer compared with those with hypomorphic variants. Patients with FA and these specific cancers should consider genetic testing focused on FANCD1 and FANCN, and patients with these genotypes may consider ongoing surveillance for these specific cancers.
MeSH term(s)	Adolescent ; Adult ; BRCA2 Protein/genetics ; Biomarkers, Tumor/genetics ; Child ; Child, Preschool ; Fanconi Anemia/genetics ; Fanconi Anemia/pathology ; Fanconi Anemia Complementation Group N Protein/genetics ; Female ; Follow-Up Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Prognosis ; Young Adult
Chemical Substances	BRCA2 Protein ; BRCA2 protein, human ; Biomarkers, Tumor ; Fanconi Anemia Complementation Group N Protein ; PALB2 protein, human
Language	English
Publishing date	2021-10-04
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	2599227-2
ISSN	2210-7762
ISSN	2210-7762
DOI	10.1016/j.cancergen.2021.10.001
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