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Cristina Rusu
“St. Mary” Children’s Hospital, Vasile Lupu Street, No 62-64, 700309 Iasi, Romania

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Case report
Published: 30 August 2021 in Children
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Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion’ size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)—combined kits—as a diagnostic test and selection tool for cases that require other investigations (chromosomal microarray analysis—CMA, karyotype). For all cases we conducted a clinical examination with the main features identified: facial dysmorphism, intellectual disability, postnatal development delay, cardiac defects and hypotonia. In some cases, we observed seizures, structural brain abnormalities, immunodeficiencies, and renal anomalies. Prenatal growth retardation was detected in a relatively small number of cases, but postnatal growth failure was a constant feature. In all cases, the clinical diagnosis was confirmed by genetic analyses: karyotype and/or MLPA. In conclusion, renal and brain defects, as well as immunodeficiency are rare manifestations and should be looked for. Although CMA is the standard test, in our experience, MLPA is also a reliable screening method as the identified cases were either confirmed by MLPA or selected for further investigations.

ACS Style

Eva-Cristiana Gavril; Alina Costina Luca; Alexandrina-Stefania Curpan; Roxana Popescu; Irina Resmerita; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Eusebiu Vlad Gorduza; Mihaela Gramescu; Cristina Rusu. Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. Children 2021, 8, 751 .

AMA Style

Eva-Cristiana Gavril, Alina Costina Luca, Alexandrina-Stefania Curpan, Roxana Popescu, Irina Resmerita, Monica Cristina Panzaru, Lacramioara Ionela Butnariu, Eusebiu Vlad Gorduza, Mihaela Gramescu, Cristina Rusu. Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. Children. 2021; 8 (9):751.

Chicago/Turabian Style

Eva-Cristiana Gavril; Alina Costina Luca; Alexandrina-Stefania Curpan; Roxana Popescu; Irina Resmerita; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Eusebiu Vlad Gorduza; Mihaela Gramescu; Cristina Rusu. 2021. "Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review." Children 8, no. 9: 751.

Journal article
Published: 26 May 2021 in Genes
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Pallister–Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We present three cases of PKS and two cases of trisomy 12p to illustrate and discuss features rarely cited in the literature, present certain particularities that not yet been cited, and analyze the differences between entities. Moreover, we present alternative methods of diagnosis that could be easily used in daily practice. Features not yet or rarely reported in PKS literature include marked excess of hair on the forehead and ears in the first months of life, a particular eye disorder (abnormal iris color with pointed pupil), connective tissue defects, repeated episodes of infection and autonomic dysfunction, endocrine malfunction as a possible cause of postnatal growth deficit, more complex sensory impairments, and mild early myoclonic jerks. After performing different combinations of tests, we conclude that MLPA (follow-up kit P230-B1) or array CGH using DNA extracted from a buccal swab is a reliable method of diagnosis in PKS and we recommend either one as a first intention diagnostic test. In cases without major defects associated (suspicion trisomy 12p), subtelomeric MLPA should be performed first.

ACS Style

Aurora Arghir; Roxana Popescu; Irina Resmerita; Magdalena Budisteanu; Lacramioara Butnariu; Eusebiu Gorduza; Mihaela Gramescu; Monica Panzaru; Sorina Papuc; Adriana Sireteanu; Andreea Tutulan-Cunita; Cristina Rusu. Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review. Genes 2021, 12, 811 .

AMA Style

Aurora Arghir, Roxana Popescu, Irina Resmerita, Magdalena Budisteanu, Lacramioara Butnariu, Eusebiu Gorduza, Mihaela Gramescu, Monica Panzaru, Sorina Papuc, Adriana Sireteanu, Andreea Tutulan-Cunita, Cristina Rusu. Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review. Genes. 2021; 12 (6):811.

Chicago/Turabian Style

Aurora Arghir; Roxana Popescu; Irina Resmerita; Magdalena Budisteanu; Lacramioara Butnariu; Eusebiu Gorduza; Mihaela Gramescu; Monica Panzaru; Sorina Papuc; Adriana Sireteanu; Andreea Tutulan-Cunita; Cristina Rusu. 2021. "Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review." Genes 12, no. 6: 811.

Journal article
Published: 15 December 2020 in Genes
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Background: We have investigated the main genetic causes for non-syndromic hearing impairment (NSHI) in the hearing impairment individuals from the North-Eastern Romania and proposed a cost-effective diagnosis protocol. Methods: MLPA followed by Sanger Sequencing were used for all 291 patients included in this study. Results: MLPA revealed abnormal results in 141 cases (48.45%): 57 (40.5%) were c.35delG homozygous, 26 (18.44%) were c.35delG heterozygous, 14 (9.93%) were compound heterozygous and 16 (11.35%) had other types of variants. The entire coding region of GJB2 was sequenced and out of 150 patients with normal results at MLPA, 29.33% had abnormal results: variants in heterozygous state: c.71G>A (28%), c.457G>A (20%), c.269T>C (12%), c.109G>A (12%), c.100A>T (12%), c.551G>C (8%). Out of 26 patients with c.35delG in heterozygous state, 38.46% were in fact compound heterozygous. Conclusions: We identified two variants: c.109G>A and c.100A>T that have not been reported in any study from Romania. MLPA is an inexpensive, rapid and reliable technique that could be a cost-effective diagnosis method, useful for patients with hearing impairment. It can be adaptable for the mutation spectrum in every population and followed by Sanger sequencing can provide a genetic diagnosis for patients with different degrees of hearing impairment.

ACS Style

Irina Resmerita; Romica Sebastian Cozma; Roxana Popescu; Luminita Mihaela Radulescu; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Lavinia Caba; Ovidiu-Dumitru Ilie; Eva-Cristiana Gavril; Eusebiu Vlad Gorduza; Cristina Rusu. Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review. Genes 2020, 11, 1506 .

AMA Style

Irina Resmerita, Romica Sebastian Cozma, Roxana Popescu, Luminita Mihaela Radulescu, Monica Cristina Panzaru, Lacramioara Ionela Butnariu, Lavinia Caba, Ovidiu-Dumitru Ilie, Eva-Cristiana Gavril, Eusebiu Vlad Gorduza, Cristina Rusu. Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review. Genes. 2020; 11 (12):1506.

Chicago/Turabian Style

Irina Resmerita; Romica Sebastian Cozma; Roxana Popescu; Luminita Mihaela Radulescu; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Lavinia Caba; Ovidiu-Dumitru Ilie; Eva-Cristiana Gavril; Eusebiu Vlad Gorduza; Cristina Rusu. 2020. "Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review." Genes 11, no. 12: 1506.

Journal article
Published: 15 December 2020 in Journal of Clinical Medicine
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Background: This study evaluates the main (para)clinical aspects and outcomes in a group of Romanian children diagnosed with acute lymphoblastic leukemia (ALL), under the conditions of antileukemic treatment according to an adapted ALL IC Berlin–Frankfurt–Munster (BFM) 2002 protocol. Methods: We performed a retrospective single-center study of 125 children diagnosed with ALL between 2010 and 2016. Standard forms were used for data collection of variate clinical and paraclinical parameters. Results: The children were predominantly male (64.8%) and their median age at diagnosis was 5 years. A total of 107 patients were diagnosed with precursor B-cell acute lymphoblastic leukemia (BCP)-ALL and 18 with T-cell acute lymphoblastic leukemia T-ALL. Multiplex reverse transcription polymerase chain reaction RT-PCR assay for ETV6-RUNX1, BCR-ABL, E2A-PBX1, KMT2A-AFF1, and STIL-TAL1 fusion genes was performed in 111 patients. ETV6-RUNX1 translocation was detected in 18.9% of patients, while BCR-ABL1 and E2A-PBX1 rearrangements were seen in 2.7% and 3.6%, respectively. Complete remission at the end of induction phase was obtained in 89.6% of patients. The overall relapse rate was 11.2%, with 11 early and 3 late relapses. The 5-year overall survival rate in BCP-ALL was 81.6% and in T-ALL 71.4%. Conclusions: The 5-year overall and event-free survival rates in our study were slightly lower than those reported in developed countries, so the patients’ outcomes are encouraging.

ACS Style

Mirabela-Smaranda Alecsa; Mihaela Moscalu; Laura-Mihaela Trandafir; Anca-Viorica Ivanov; Cristina Rusu; Ingrith-Crenguta Miron. Outcomes in Pediatric Acute Lymphoblastic Leukemia—A Single-Center Romanian Experience. Journal of Clinical Medicine 2020, 9, 4052 .

AMA Style

Mirabela-Smaranda Alecsa, Mihaela Moscalu, Laura-Mihaela Trandafir, Anca-Viorica Ivanov, Cristina Rusu, Ingrith-Crenguta Miron. Outcomes in Pediatric Acute Lymphoblastic Leukemia—A Single-Center Romanian Experience. Journal of Clinical Medicine. 2020; 9 (12):4052.

Chicago/Turabian Style

Mirabela-Smaranda Alecsa; Mihaela Moscalu; Laura-Mihaela Trandafir; Anca-Viorica Ivanov; Cristina Rusu; Ingrith-Crenguta Miron. 2020. "Outcomes in Pediatric Acute Lymphoblastic Leukemia—A Single-Center Romanian Experience." Journal of Clinical Medicine 9, no. 12: 4052.

Journal article
Published: 03 June 2020 in Journal of Gastrointestinal and Liver Diseases
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Background and Aims: The coexistence of RAS and BRAF mutations is extremely rare, occurring in approximately 0.05% of patients with metastatic colorectal cancer (mCRC). Starting from a case presentation, this review aims to examine the prevalence, clinical, histopathological and molecular features of tumors with concomitant mutations. Methods: Case report and systematic review. We performed a systematic literature search in PubMed and EMBASE using the following MeSH terms: “coexistence” OR “concomitant” AND “RAS” AND “BRAF” AND “colorectal cancer” from the inception of the databases onwards. Results: We present the case of a 53-year-old man diagnosed with metastatic rectal adenocarcinoma with both a KRAS and a BRAF mutation. The review included eleven papers reporting on a total of 30 mCRC cases with concomitant RAS and BRAF mutations. The male/female ratio was 11/5. The average age was 58.5 years. The tumor was located in nine cases on the right colon and in two cases in the left colon. 43.3% of subjects had liver metastases, and 6.6% had lung metastases. Next-generation sequencing (NGS) was used in 36.6% of cases and polymerase chain reaction (PCR) in 16.6% of cases. KRAS mutations were present in 83.3% of patients and NRAS mutations in 16.6% of patients. Survival could be assessed in 10 patients and the median was 21.1 months (about 30% lower than the survival in the general mCRC population). Conclusion: The results of this systematic review suggest the need to design a cohort study (either prospective or retrospective) to better characterize the patients with concomitant RAS and BRAF mutations and to establish the optimal treatment for this rare situation.

ACS Style

Vlad-Adrian Afrăsânie; Bogdan Gafton; Mihai Vasile Marinca; Teodora Alexa-Stratulat; Lucian Miron; Cristina Rusu; Anca-Viorica Ivanov; Gheorghe G Balan; Adina-Emilia Croitoru. The Coexistence of RAS and BRAF Mutations in Metastatic Colorectal Cancer: A Case Report and Systematic Literature Review. Journal of Gastrointestinal and Liver Diseases 2020, 29, 251 -256.

AMA Style

Vlad-Adrian Afrăsânie, Bogdan Gafton, Mihai Vasile Marinca, Teodora Alexa-Stratulat, Lucian Miron, Cristina Rusu, Anca-Viorica Ivanov, Gheorghe G Balan, Adina-Emilia Croitoru. The Coexistence of RAS and BRAF Mutations in Metastatic Colorectal Cancer: A Case Report and Systematic Literature Review. Journal of Gastrointestinal and Liver Diseases. 2020; 29 (2):251-256.

Chicago/Turabian Style

Vlad-Adrian Afrăsânie; Bogdan Gafton; Mihai Vasile Marinca; Teodora Alexa-Stratulat; Lucian Miron; Cristina Rusu; Anca-Viorica Ivanov; Gheorghe G Balan; Adina-Emilia Croitoru. 2020. "The Coexistence of RAS and BRAF Mutations in Metastatic Colorectal Cancer: A Case Report and Systematic Literature Review." Journal of Gastrointestinal and Liver Diseases 29, no. 2: 251-256.