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1. Children with special health care needs attending emergency department in Italy: analysis of 3479 cases

Author

Cianci, P., D'Apolito, V., Moretti, A., Barbagallo, M., Paci, S., Carbone, M. T., Lubrano, R., Urbino, A., Dionisi Vici, C., Memo, L., Zampino, G., La Marca, G., Villani, A., Corsello, G., Selicorni, A., Campania, A., Geremia, C., Castagno, E., Masi, S., Poggi, G., Vestri, M., Fossali, E., Rocchi, A., Dadalt, L., Arrighini, A., Chiappa, S., Renna, S., Piccotti, E., Borgna, C., Govoni, M. R., Biondi, A., Fossati, C., Iughetti, L., Bertolani, P., Salvatoni, A., Agosti, M., Fuca, F., Ilardi, A., Giuffrida, S., Diguardo, V., Boni, S., D'Antiga, L., Ruggeri, M., Chiaretti, A., Amarri, S., Peduto, A., Bernardi, F., Corsini, I., Deangelis, G. L., Ruberto, C., Zuccotti, G. V., Stringhi, C., Lombardi, G., Salladini, C., Dimichele, S., Parola, L., Porta, A., Biasucci, G., Bellini, M., Ortisi, M. T., Apuril, E., Midulla, F., Tarani, L., Parlapiano, G., Lietti, D., Sforzini, C., Marseglia, G. L., Savasta, S., Falsaperla, R., Vitaliti, M. C., Chiarelli, F., Rossi, N., Banderali, G., Giacchero, R., Bernardo, L., Pinto, F., Fabiani, E., Ficcadenti, A., Pellegrini, G., Giacoma, S., Biban, P., Spada, S., Tipo, V., Ghitti, C., Bolognini, S., Mariani, G., Russo, A., Colella, M. G., Verrico, A., Bruni, P., Poddighe, D., Cagnoli, G., Morandi, F., Gadaleta, A., Barbi, E., Bruno, I. I., Graziano, R., Sgaramella, P., Catalani, M. P., Baldoni, I., Colarusso, G., Galvagno, G., Barone, A. P., Longo, A., Nardella, G., Portale, G., Garigali, G., Bona, G., Erbela, M., Agostiniani, R., Nanni, L., Schieven, E., Dona, M., Varisco, T., Russo, F., Distefano, V. A., Dipietro, F., Tarallo, L., Imperato, L., Parisi, G., Salzano, R., Raiola, G., Talarico, V., Bellu, R., Cannone, A., Ferrante, P., Cianci, P, D'Apolito, V, Moretti, A, Barbagallo, M, Paci, S, Carbone, M, Lubrano, R, Urbino, A, Dionisi Vici, C, Memo, L, Zampino, G, La Marca, G, Villani, A, Corsello, G, Selicorni, A, Campania, A, Geremia, C, Castagno, E, Masi, S, Poggi, G, Vestri, M, Fossali, E, Rocchi, A, Dadalt, L, Arrighini, A, Chiappa, S, Renna, S, Piccotti, E, Borgna, C, Govoni, M, Biondi, A, Fossati, C, Iughetti, L, Bertolani, P, Salvatoni, A, Agosti, M, Fuca, F, Ilardi, A, Giuffrida, S, Diguardo, V, Boni, S, D'Antiga, L, Ruggeri, M, Chiaretti, A, Amarri, S, Peduto, A, Bernardi, F, Corsini, I, Deangelis, G, Ruberto, C, Zuccotti, G, Stringhi, C, Lombardi, G, Salladini, C, Dimichele, S, Parola, L, Porta, A, Biasucci, G, Bellini, M, Ortisi, M, Apuril, E, Midulla, F, Tarani, L, Parlapiano, G, Lietti, D, Sforzini, C, Marseglia, G, Savasta, S, Falsaperla, R, Vitaliti, M, Chiarelli, F, Rossi, N, Banderali, G, Giacchero, R, Bernardo, L, Pinto, F, Fabiani, E, Ficcadenti, A, Pellegrini, G, Giacoma, S, Biban, P, Spada, S, Tipo, V, Ghitti, C, Bolognini, S, Mariani, G, Russo, A, Colella, M, Verrico, A, Bruni, P, Poddighe, D, Cagnoli, G, Morandi, F, Gadaleta, A, Barbi, E, Bruno, I, Graziano, R, Sgaramella, P, Catalani, M, Baldoni, I, Colarusso, G, Galvagno, G, Barone, A, Longo, A, Nardella, G, Portale, G, Garigali, G, Bona, G, Erbela, M, Agostiniani, R, Nanni, L, Schieven, E, Dona, M, Varisco, T, Russo, F, Distefano, V, Dipietro, F, Tarallo, L, Imperato, L, Parisi, G, Salzano, R, Raiola, G, Talarico, V, Bellu, R, Cannone, A, Ferrante, P, Paola Cianci, Valeria D'Apolito, Alex Moretti, Massimo Barbagallo, Sabrina Paci, Maria Teresa Carbone, Riccardo Lubrano, Antonio Urbino, Carlo Dionisi Vici, Luigi Memo, Giuseppe Zampino, Giancarlo La Marca, Alberto Villani, Giovanni Corsello, Angelo Selicorni, Cianci, P., D'Apolito, V., Moretti, A., Barbagallo, M., Paci, S., Carbone, M. T., Lubrano, R., Urbino, A., Dionisi Vici, C., Memo, L., Zampino, G., La Marca, G., Villani, A., Corsello, G., Selicorni, A., Campania, A., Geremia, C., Castagno, E., Masi, S., Poggi, G., Vestri, M., Fossali, E., Rocchi, A., Dadalt, L., Arrighini, A., Chiappa, S., Renna, S., Piccotti, E., Borgna, C., Govoni, M. R., Biondi, A., Fossati, C., Iughetti, L., Bertolani, P., Salvatoni, A., Agosti, M., Fuca, F., Ilardi, A., Giuffrida, S., Diguardo, V., Boni, S., D'Antiga, L., Ruggeri, M., Chiaretti, A., Amarri, S., Peduto, A., Bernardi, F., Corsini, I., Deangelis, G. L., Ruberto, C., Zuccotti, G. V., Stringhi, C., Lombardi, G., Salladini, C., Dimichele, S., Parola, L., Porta, A., Biasucci, G., Bellini, M., Ortisi, M. T., Apuril, E., Midulla, F., Tarani, L., Parlapiano, G., Lietti, D., Sforzini, C., Marseglia, G. L., Savasta, S., Falsaperla, R., Vitaliti, M. C., Chiarelli, F., Rossi, N., Banderali, G., Giacchero, R., Bernardo, L., Pinto, F., Fabiani, E., Ficcadenti, A., Pellegrini, G., Giacoma, S., Biban, P., Spada, S., Tipo, V., Ghitti, C., Bolognini, S., Mariani, G., Russo, A., Colella, M. G., Verrico, A., Bruni, P., Poddighe, D., Cagnoli, G., Morandi, F., Gadaleta, A., Barbi, E., Bruno, I. I., Graziano, R., Sgaramella, P., Catalani, M. P., Baldoni, I., Colarusso, G., Galvagno, G., Barone, A. P., Longo, A., Nardella, G., Portale, G., Garigali, G., Bona, G., Erbela, M., Agostiniani, R., Nanni, L., Schieven, E., Dona, M., Varisco, T., Russo, F., Distefano, V. A., Dipietro, F., Tarallo, L., Imperato, L., Parisi, G., Salzano, R., Raiola, G., Talarico, V., Bellu, R., Cannone, A., and Ferrante, P.

Subjects
Male, Metabolic disease, Hospitalization rate, Congenital skeletal condition, Children with special health care needs, Emergency department, Isolated CNS malformation, Metabolic diseases, Multiple AED therapy, Neuromuscular diseases, Syndromic disorders, True isolated microcephaly, 0302 clinical medicine, Clinical history, Medicine, Child, education.field_of_study, Neuromuscular disease, Settore MED/38, Disabled Children, Hospitalization, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Italy, Child, Preschool, Female, Children with special health care need, Emergency Service, Hospital, medicine.medical_specialty, Adolescent, Population, Triage Code, 03 medical and health sciences, Pharmacotherapy, 030225 pediatrics, Humans, Medical prescription, education, Retrospective Studies, Health Services Needs and Demand, Syndromic disorder, business.industry, Research, Infant, Newborn, Infant, 030208 emergency & critical care medicine, Children with special health care needs, Congenital skeletal conditions,Emergency department, Hospitalization rate, Isolated CNS malformation, Metabolic diseases, Multiple AED therapy, Neuromuscular diseases, Syndromic disorders, True isolated microcephaly, Family medicine, Chronic Disease, business, Facilities and Services Utilization
Abstract

Background Although children with special health care needs (CSHCN) represent a minority of the population, they go through more hospitalizations, more admissions to the Emergency Department (ED), and receive a major number of medical prescriptions, in comparison to general pediatric population. Objectives of the study were to determine the reasons for admission to the ED in Italian CSHCN, and to describe the association between patient’s demographic data, clinical history, and health services requirements. Methods Ad hoc web site was created to collect retrospective data of 3479 visits of CSHCN to the ED in 58 Italian Hospitals. Results Seventy-two percent of patients admitted to ED were affected by a previously defined medical condition. Most of the ED admissions were children with syndromic conditions (54%). 44.2% of the ED admissions were registered during the night-time and/or at the weekends. The hospitalization rate was of 45.6% among patients admitted to the ED. The most common reason for admission to the ED was the presence of respiratory symptoms (26.6%), followed by gastrointestinal problems (21.3%) and neurological disorders (18.2%). 51.4% of the access were classified as ‘urgent’, with a red/yellow triage code. Considering the type of ED, 61.9% of the visits were conducted at the Pediatric EDs (PedEDs), 33.5% at the Functional EDs (FunEDs) and 4.6% at the Dedicated EDs (DedEDs). Patients with more complex clinical presentation were more likely to be evaluated at the PedEDs. CSHCN underwent to a higher number of medical procedures at the PedEDs, more in comparison to other EDs. Children with medical devices were directed to a PedED quite exclusively when in need for medical attention. Subjects under multiple anti-epileptic drug therapy attended to PedEDs or FunEDs generally. Patients affected by metabolic diseases were more likely to look for medical attention at FunEDs. Syndromic patients mostly required medical attention at the DedEDs. Conclusions Access of CSHCN to an ED is not infrequent. For this reason, it is fundamental for pediatricians working in any kind of ED to increase their general knowledge about CHSCN and to gain expertise in the management of such patients and their related medical complexity.

Published
2020

2. Children with special health care needs attending emergency department in Italy: analysis of 3479 cases

Author

Cianci, P, D'Apolito, V, Moretti, A, Barbagallo, M, Paci, S, Carbone, M, Lubrano, R, Urbino, A, Dionisi Vici, C, Memo, L, Zampino, G, La Marca, G, Villani, A, Corsello, G, Selicorni, A, Campania, A, Geremia, C, Castagno, E, Masi, S, Poggi, G, Vestri, M, Fossali, E, Rocchi, A, Dadalt, L, Arrighini, A, Chiappa, S, Renna, S, Piccotti, E, Borgna, C, Govoni, M, Biondi, A, Fossati, C, Iughetti, L, Bertolani, P, Salvatoni, A, Agosti, M, Fuca, F, Ilardi, A, Giuffrida, S, Diguardo, V, Boni, S, D'Antiga, L, Ruggeri, M, Chiaretti, A, Amarri, S, Peduto, A, Bernardi, F, Corsini, I, Deangelis, G, Ruberto, C, Zuccotti, G, Stringhi, C, Lombardi, G, Salladini, C, Dimichele, S, Parola, L, Porta, A, Biasucci, G, Bellini, M, Ortisi, M, Apuril, E, Midulla, F, Tarani, L, Parlapiano, G, Lietti, D, Sforzini, C, Marseglia, G, Savasta, S, Falsaperla, R, Vitaliti, M, Chiarelli, F, Rossi, N, Banderali, G, Giacchero, R, Bernardo, L, Pinto, F, Fabiani, E, Ficcadenti, A, Pellegrini, G, Giacoma, S, Biban, P, Spada, S, Tipo, V, Ghitti, C, Bolognini, S, Mariani, G, Russo, A, Colella, M, Verrico, A, Bruni, P, Poddighe, D, Cagnoli, G, Morandi, F, Gadaleta, A, Barbi, E, Bruno, I, Graziano, R, Sgaramella, P, Catalani, M, Baldoni, I, Colarusso, G, Galvagno, G, Barone, A, Longo, A, Nardella, G, Portale, G, Garigali, G, Bona, G, Erbela, M, Agostiniani, R, Nanni, L, Schieven, E, Dona, M, Varisco, T, Russo, F, Distefano, V, Dipietro, F, Tarallo, L, Imperato, L, Parisi, G, Salzano, R, Raiola, G, Talarico, V, Bellu, R, Cannone, A, Ferrante, P, Cianci P., D'Apolito V., Moretti A., Barbagallo M., Paci S., Carbone M. T., Lubrano R., Urbino A., Dionisi Vici C., Memo L., Zampino G., La Marca G., Villani A., Corsello G., Selicorni A., Campania A., Geremia C., Castagno E., Masi S., Poggi G., Vestri M., Fossali E., Rocchi A., DaDalt L., Arrighini A., Chiappa S., Renna S., Piccotti E., Borgna C., Govoni M. R., Biondi A., Fossati C., Iughetti L., Bertolani P., Salvatoni A., Agosti M., Fuca F., Ilardi A., Giuffrida S., DiGuardo V., Boni S., D'Antiga L., Ruggeri M., Chiaretti A., Amarri S., Peduto A., Bernardi F., Corsini I., DeAngelis G. L., Ruberto C., Zuccotti G. V., Stringhi C., Lombardi G., Salladini C., DiMichele S., Parola L., Porta A., Biasucci G., Bellini M., Ortisi M. T., Apuril E., Midulla F., Tarani L., Parlapiano G., Lietti D., Sforzini C., Marseglia G. L., Savasta S., Falsaperla R., Vitaliti M. C., Chiarelli F., Rossi N., Banderali G., Giacchero R., Bernardo L., Pinto F., Fabiani E., Ficcadenti A., Pellegrini G., Giacoma S., Biban P., Spada S., Tipo V., Ghitti C., Bolognini S., Mariani G., Russo A., Colella M. G., Verrico A., Bruni P., Poddighe D., Cagnoli G., Morandi F., Gadaleta A., Barbi E., Bruno I. I., Graziano R., Sgaramella P., Catalani M. P., Baldoni I., Colarusso G., Galvagno G., Barone A. P., Longo A., Nardella G., Portale G., Garigali G., Bona G., Erbela M., Agostiniani R., Nanni L., Schieven E., Dona M., Varisco T., Russo F., DiStefano V. A., DiPietro F., Tarallo L., Imperato L., Parisi G., Salzano R., Raiola G., Talarico V., Bellu R., Cannone A., Ferrante P., Cianci, P, D'Apolito, V, Moretti, A, Barbagallo, M, Paci, S, Carbone, M, Lubrano, R, Urbino, A, Dionisi Vici, C, Memo, L, Zampino, G, La Marca, G, Villani, A, Corsello, G, Selicorni, A, Campania, A, Geremia, C, Castagno, E, Masi, S, Poggi, G, Vestri, M, Fossali, E, Rocchi, A, Dadalt, L, Arrighini, A, Chiappa, S, Renna, S, Piccotti, E, Borgna, C, Govoni, M, Biondi, A, Fossati, C, Iughetti, L, Bertolani, P, Salvatoni, A, Agosti, M, Fuca, F, Ilardi, A, Giuffrida, S, Diguardo, V, Boni, S, D'Antiga, L, Ruggeri, M, Chiaretti, A, Amarri, S, Peduto, A, Bernardi, F, Corsini, I, Deangelis, G, Ruberto, C, Zuccotti, G, Stringhi, C, Lombardi, G, Salladini, C, Dimichele, S, Parola, L, Porta, A, Biasucci, G, Bellini, M, Ortisi, M, Apuril, E, Midulla, F, Tarani, L, Parlapiano, G, Lietti, D, Sforzini, C, Marseglia, G, Savasta, S, Falsaperla, R, Vitaliti, M, Chiarelli, F, Rossi, N, Banderali, G, Giacchero, R, Bernardo, L, Pinto, F, Fabiani, E, Ficcadenti, A, Pellegrini, G, Giacoma, S, Biban, P, Spada, S, Tipo, V, Ghitti, C, Bolognini, S, Mariani, G, Russo, A, Colella, M, Verrico, A, Bruni, P, Poddighe, D, Cagnoli, G, Morandi, F, Gadaleta, A, Barbi, E, Bruno, I, Graziano, R, Sgaramella, P, Catalani, M, Baldoni, I, Colarusso, G, Galvagno, G, Barone, A, Longo, A, Nardella, G, Portale, G, Garigali, G, Bona, G, Erbela, M, Agostiniani, R, Nanni, L, Schieven, E, Dona, M, Varisco, T, Russo, F, Distefano, V, Dipietro, F, Tarallo, L, Imperato, L, Parisi, G, Salzano, R, Raiola, G, Talarico, V, Bellu, R, Cannone, A, Ferrante, P, Cianci P., D'Apolito V., Moretti A., Barbagallo M., Paci S., Carbone M. T., Lubrano R., Urbino A., Dionisi Vici C., Memo L., Zampino G., La Marca G., Villani A., Corsello G., Selicorni A., Campania A., Geremia C., Castagno E., Masi S., Poggi G., Vestri M., Fossali E., Rocchi A., DaDalt L., Arrighini A., Chiappa S., Renna S., Piccotti E., Borgna C., Govoni M. R., Biondi A., Fossati C., Iughetti L., Bertolani P., Salvatoni A., Agosti M., Fuca F., Ilardi A., Giuffrida S., DiGuardo V., Boni S., D'Antiga L., Ruggeri M., Chiaretti A., Amarri S., Peduto A., Bernardi F., Corsini I., DeAngelis G. L., Ruberto C., Zuccotti G. V., Stringhi C., Lombardi G., Salladini C., DiMichele S., Parola L., Porta A., Biasucci G., Bellini M., Ortisi M. T., Apuril E., Midulla F., Tarani L., Parlapiano G., Lietti D., Sforzini C., Marseglia G. L., Savasta S., Falsaperla R., Vitaliti M. C., Chiarelli F., Rossi N., Banderali G., Giacchero R., Bernardo L., Pinto F., Fabiani E., Ficcadenti A., Pellegrini G., Giacoma S., Biban P., Spada S., Tipo V., Ghitti C., Bolognini S., Mariani G., Russo A., Colella M. G., Verrico A., Bruni P., Poddighe D., Cagnoli G., Morandi F., Gadaleta A., Barbi E., Bruno I. I., Graziano R., Sgaramella P., Catalani M. P., Baldoni I., Colarusso G., Galvagno G., Barone A. P., Longo A., Nardella G., Portale G., Garigali G., Bona G., Erbela M., Agostiniani R., Nanni L., Schieven E., Dona M., Varisco T., Russo F., DiStefano V. A., DiPietro F., Tarallo L., Imperato L., Parisi G., Salzano R., Raiola G., Talarico V., Bellu R., Cannone A., and Ferrante P.

Abstract

Background: Although children with special health care needs (CSHCN) represent a minority of the population, they go through more hospitalizations, more admissions to the Emergency Department (ED), and receive a major number of medical prescriptions, in comparison to general pediatric population. Objectives of the study were to determine the reasons for admission to the ED in Italian CSHCN, and to describe the association between patient’s demographic data, clinical history, and health services requirements. Methods: Ad hoc web site was created to collect retrospective data of 3479 visits of CSHCN to the ED in 58 Italian Hospitals. Results: Seventy-two percent of patients admitted to ED were affected by a previously defined medical condition. Most of the ED admissions were children with syndromic conditions (54%). 44.2% of the ED admissions were registered during the night-time and/or at the weekends. The hospitalization rate was of 45.6% among patients admitted to the ED. The most common reason for admission to the ED was the presence of respiratory symptoms (26.6%), followed by gastrointestinal problems (21.3%) and neurological disorders (18.2%). 51.4% of the access were classified as ‘urgent’, with a red/yellow triage code. Considering the type of ED, 61.9% of the visits were conducted at the Pediatric EDs (PedEDs), 33.5% at the Functional EDs (FunEDs) and 4.6% at the Dedicated EDs (DedEDs). Patients with more complex clinical presentation were more likely to be evaluated at the PedEDs. CSHCN underwent to a higher number of medical procedures at the PedEDs, more in comparison to other EDs. Children with medical devices were directed to a PedED quite exclusively when in need for medical attention. Subjects under multiple anti-epileptic drug therapy attended to PedEDs or FunEDs generally. Patients affected by metabolic diseases were more likely to look for medical attention at FunEDs. Syndromic patients mostly required medical attention at the DedEDs. Conclusions

Published
2020

3. Peritonitis Aguda por Diverticulo Apendicular Perforado / Acute perforated diverticulum appendiceal peritonitis

Author

Martinez Villalba N, Caballero E, Perez R, Gonzalez Miltos E, and Apuril E

Subjects
acute appendicitis, appendix diverticulum, lcsh:R, lcsh:Medicine, Peritonitis, digestive system, digestive system diseases
Abstract

Appendix diverticular disease is a casual finding after appendectomies or pathological studies of surgical samples. Most patients are male adults between the fourth and fifth decade of life. 16 years old male consults for a 48 hours stitch pain in right iliac fossa of moderate intensity radiating to lower abdomen with nausea and fever, without vomiting or diarrhea. Presents lower abdominal pain with muscle guarding and pain on physical examination. Bowel sounds negative. Laboratory routine study shows leukocytosis with neutrophilia. A perforated diverticulum of about 15cm diameter is found during surgery in the middle third of the cecum appendix with 200cc purulent fluid in and multiple adhesions to transverse colon, omentum and small intestine. A conventional appendectomy is performed. Acute appendix diverticulitis is a rare entity and its finding is by casualty. It is important to consider it a differential diagnosis especially in the intraoperative treatment which in most cases does not differ from conventional appendectomy.

Published
2015

4. Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Author

Rosina E, Pezzani L, Apuril E, Pezzoli L, Marchetti D, Bellini M, Lucca C, Meossi C, Massimello M, Mariani M, Scatigno A, Cattaneo E, Colombo L, Maitz S, Cereda A, Milani D, Spaccini L, Bedeschi MF, Selicorni A, and Iascone M

Subjects
Humans, Child, Prospective Studies, Exome Sequencing, Genome-Wide Association Study, Italy, Outpatients, DNA Copy Number Variations
Abstract

Background: The recent guidelines suggest the use of genome-wide analyses, such as whole exome sequencing (WES), at the beginning of the diagnostic approach for cases with suspected genetic conditions. However, in many realities it still provides for the execution of a multi-step pathway, thus requiring several genetic tests to end the so-called 'diagnostic odyssey'., Methods: We reported the results of GENE Project (Genomic analysis Evaluation NEtwork): a multicentre prospective cohort study on 125 paediatric outpatients with a suspected genetic disease in which we performed first-tier trio-WES, including exome-based copy number variation analysis, in parallel to a 'traditional approach' of two/three sequential genetic tests., Results: First-tier trio-WES detected a conclusive diagnosis in 41.6% of patients, way above what was found with routine genetic testing (25%), with a time-to-result of about 50 days. Notably, the study showed that 44% of WES-reached diagnoses would be missed with the traditional approach. The diagnostic rate (DR) of the two approaches varied in relation to the phenotypic class of referral and to the proportion of cases with a defined diagnostic suspect, proving the major difference for neurodevelopmental disorders. Moreover, trio-WES analysis detected variants in candidate genes of unknown significance (EPHA4, DTNA, SYNCRIP, NCOR1, TFDP1, SPRED3, EDA2R, PHF12, PPP1R12A, WDR91, CDC42BPG, CSNK1D, EIF3H, TMEM63B, RIPPLY3) in 19.4% of undiagnosed cases., Conclusion: Our findings represent real-practice evidence of how first-tier genome-wide sequencing tests significantly improve the DR for paediatric outpatients with a suspected underlying genetic aetiology, thereby allowing a time-saving setting of the correct management, follow-up and family planning., (© 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Published
2024
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5. A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature.

Author

Pelle A, Pezzoli L, Apuril E, Iascone M, and Selicorni A

Subjects
Child, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Histones chemistry, Humans, Protein Domains genetics, Alleles, Histones genetics, Intellectual Disability diagnosis, Intellectual Disability genetics, Megalencephaly diagnosis, Megalencephaly genetics, Mutation, Phenotype
Abstract

Pathogenic variants of HIST1H1Egene have recently been associated with a condition known as Rahman syndrome, characterized by overgrowth, intellectual disability and nonspecific dysmorphic features (high hairline, full cheeks, wide nasal bridge). Wide clinical variability is reported, especially regarding the level of neurodevelopment delay and intellectual disability. We report a 10-year-old girl with macrocephaly and global developmental delay, in whom a novel heterozygous variant in the HIST1H1Egene [c.392_395dup (p.Gly133fs)] was discovered, but involving the same C-terminal domain-protein domain reported previously. Comparing the clinical data of our patient with those previously described, a 'core phenotype' with macrocephaly, psychomotor delay/intellectual disability and mild facial dysmorphisms seems evident.

Published
2021
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6. Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum.

Author

Parma B, Cianci P, Decimi V, Mariani M, Provero MC, Funari C, Tajè S, Apuril E, Cereda A, Panceri R, Maitz S, Fossati C, and Selicorni A

Subjects
Adolescent, Cell Cycle Proteins blood, Child, Child, Preschool, Chromosomal Proteins, Non-Histone blood, Cohort Studies, De Lange Syndrome blood, De Lange Syndrome metabolism, De Lange Syndrome pathology, Female, Humans, Intellectual Disability blood, Intellectual Disability metabolism, Intellectual Disability pathology, Iron blood, Italy, Male, Malnutrition blood, Malnutrition metabolism, Malnutrition pathology, Phenotype, De Lange Syndrome genetics, Eating genetics, Intellectual Disability genetics, Malnutrition genetics
Abstract

Cornelia de Lange syndrome Spectrum (CdLSp) is characterized by intellectual disability, facial dysmorphisms, and growth impairment. Although eating difficulties are a well-known feature of the disease, there is no data regarding the nutritional deficiencies of these patients. The food intake was tracked using a dietary transcription provided by the family/caregivers, biochemical nutritional parameters were measured with laboratory tests and through an accurate clinical evaluation of the incidence of qualitative and quantitative imbalances in a cohort of 73 patients with CdLSp ware determined. Of these 73, 62 (85%) subjects provided a complete and detailed dietary transcription. In the studied population, a quantitative caloric imbalance in 47/62 (76%) subjects was observed. The caloric intake was low in 27/62 (43%) subjects whereas excessive in 20/62 (33%). Only 15/62 (24%) had an optimum caloric intake. Regarding micronutrients, a calcium intake deficiency in 32% of the patients (20/62) was observed. Blood tests revealed a low iron level in 22/73 (30%) of the patients and 25(OH)D deficiency in 49/73 (67%). Serum hypocalcemia was not evidenced. Qualitative and quantitative imbalances resulted in more frequent than expected in CdLSp patients. A qualitative imbalance was more prevalent in younger patients while in older patients prevailed mainly a quantitative disproportion. We found no statistically meaningful correlation between dietary imbalances, genetic, or clinical parameters. Our findings highlight the need for further studies to evaluate the basal metabolic rate of CdLSp patients and find a correlation with their growth impairment., (© 2020 Wiley Periodicals LLC.)

Published
2020
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7. [Resident of emergency attitude towards patients-physician relationship at the Hospital de Clínicas- Asunción, Paraguay].

Author

Silvero RA, Aranda GR, Cristaldo R, Recalde ME, Arias R, Presentado D, Patiño D, Acosta AA, Apuril ES, Hidalgo D, and Capurro MH

Subjects
Clinical Competence standards, Emergency Service, Hospital standards, Humans, Internship and Residency standards, Paraguay, Attitude of Health Personnel, Clinical Competence statistics & numerical data, Emergency Service, Hospital statistics & numerical data, Internship and Residency statistics & numerical data, Physician-Patient Relations
Abstract

Introduction: The doctor-patient relationship is reaching great importance in recent times, is highlighted their importance in areas as varied as satisfaction, compliance, perception of professional competence, the frequency of legal issues relating to malpractice and even the prognosis of the disease or the general health of the patient., Objective: To evaluate the doctor-patient relationship from the point of view of residents of emergency unit., Methods: An observational, descriptive study. The sample consisted of 36 doctors from different areas of the Emergency Rooms of the Hospital de Clínicas- Asunción, Paraguay. The patient-physician relationship was evaluated using an instrument developed by RA Chavarria-Islas et al. with four indicators: Respect, Information, Consent and Dedication., Results: 69.4% of residents have a regular patient-physician relationship; despite the 2.78% has a good relationship, 25% bad relationship and 2.78% a very bad relationship., Conclusion: Gaps in doctor-patient relationship were found in this study.. It is interesting to invest greater efforts to enhance the doctor-patient relationship as one of the edges to improve health care, which is vital in emergency care.

Published
2015

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