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1.
Children (Basel) ; 11(6)2024 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-38929193

RESUMEN

Chronic school absenteeism is a common problem in childhood and adolescence, and it is frequently observed in patients with somatic symptom and related disorders (SSRDs). This study aimed to determine whether and to what extent the presence of school absenteeism may be a risk factor for the diagnosis of SSRDs in hospitalised patients. This matched cohort study included children and adolescents aged between 8 and 17 years, admitted to the paediatric ward of the IRCCS Burlo Garofolo in Trieste from 2021 to 2023, who were divided into two groups, the first including children with at least 15 days of absence from school for medical reasons and the second including children with regular school attendance, matched to the former group by age and sex. We consecutively enrolled 70 patients, 35 in the absentee group and 35 in the control group. In the absentee group, 30/35 (85.7%) patients were diagnosed with an SSRD, while in the control group, 1/35 (2.9%) was diagnosed with an SSRD. The absentee group had a 30-fold higher risk of being diagnosed with SSRDs than the control group (RR = 30 [95% CI = 4.3-208]; p < 0.001). This study shows that in hospitalised children, a history of school absenteeism of more than two weeks is an important risk factor for the diagnosis of SSRDs.

3.
Front Pediatr ; 10: 1044170, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36533226

RESUMEN

Background: Fatigue is a common, nonspecific complaint commonly used to describe various conditions, ranging from a vague, subjective sense of weariness to muscular weakness, fatigability, exercise intolerance or excessive daytime somnolence. Despite its high frequency in the general population, literature addressing the approach to the child with fatigue from a general pediatrician perspective is poor. We herein propose a review of the available evidence on the topic, providing a practical framework to assist physicians in dealing with the issue. Methods: Data were identified by searches of MEDLINE, UpToDate, Google Scholar and references from relevant articles. Articles published between 1990 and 2021 were considered, prioritizing systematic reviews and meta-analyses. Then, an empirically-based model of approaching the tired child was proposed according to our center experience. Results: To correctly characterize the meaning of fatigue reporting, specific clues from history and physical examination should be emphasized. Duration, severity, and the age at onset are to be considered. Then, specific queries about everyday activities, sleep hygiene and social domain could be useful in reaching a specific diagnosis and offering an appropriate treatment. Conclusions: We suggest a pragmatic approach to fatigue in children based on age assessment, targeted questions, physical examination clues, and some laboratory first-level tests. This could provide pediatricians with a useful tool to discriminate the broad etiology of such a complaint, disentangling between psychological and organic causes. Further studies are needed to investigate the predictive value, specificity and sensitivity of this diagnostic workflow in managing the child with fatigue.

4.
BMC Pediatr ; 22(1): 639, 2022 11 04.
Artículo en Inglés | MEDLINE | ID: mdl-36333696

RESUMEN

BACKGROUND: COPA syndrome is a rare hereditary inflammatory disease caused by mutations in the gene encoding the coatomer protein subunit alpha, causing excessive production of type I interferon. This case is a reminder for the general paediatrician, highlighting the relevance of the association between arthritis and lung involvement in toddlers. CASE PRESENTATION: We report the case of a 2-year-old girl with intermittent limping and joint pain. Her family history was relevant for a Still disease with lung involvement in the mother. Physical examination showed moderate wrist swelling. Laboratory findings on admission showed an increase in inflammatory markers, positive rheumatoid factor, antibodies antinuclear antibody (ANA) and cyclic citrullinated peptide (anti-CCP). Wrists' ultrasound documented synovial thickening, and chest X-rays showed an unexpected severe interstitial pneumopathy. Genetic testing confirmed the diagnosis of a heterozygous mutation of the COPA gene in c.841C > T (p.R281W). Janus kinase treatment was started (baricitinib, 4 mg daily per os) with a remarkable improvement in limping and joint pain after two weeks. CONCLUSIONS: In cases of recurrent arthritis with family history and multiple involvement organs, a genetic disorder should be suspected and genetic testing should be performed. Furthermore, this case suggests that therapy with jak inhibitors may be effective and safe in interferonopathies.


Asunto(s)
Artritis Juvenil , Enfermedades Pulmonares Intersticiales , Femenino , Humanos , Preescolar , Factor Reumatoide , Artritis Juvenil/complicaciones , Artritis Juvenil/diagnóstico , Artritis Juvenil/tratamiento farmacológico , Artralgia , Pulmón
5.
Pediatr Emerg Care ; 38(6): 304-306, 2022 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-35477693

RESUMEN

ABSTRACT: A 14-year-old adolescent girl presented with severe abdominal pain, tenderness, and guarding in the right upper quadrant associated with nonbilious vomiting, scleral icterus, and fever. Laboratory tests were consistent with acute hepatitis A virus-related cholestatic hepatitis. A point-of-care ultrasound showed mild gallbladder wall thickening with increased color Doppler flow and pericholecystic fluid collection, in the absence of gallstones or biliary ducts dilatation, thus suggesting acute acalculous cholecystitis. Both the clinical symptoms and the point-of-care ultrasound findings completely resolved within 1 week after admission with conservative treatment.


Asunto(s)
Colecistitis Alitiásica , Hepatitis A , Ictericia , Dolor Abdominal/etiología , Colecistitis Alitiásica/diagnóstico , Colecistitis Alitiásica/diagnóstico por imagen , Adolescente , Femenino , Hepatitis A/complicaciones , Hepatitis A/diagnóstico , Humanos , Ultrasonografía
6.
Children (Basel) ; 9(3)2022 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-35327750

RESUMEN

OBJECTIVES: The aim of this paper is to describe a case series of paediatric patients affected by anastomotic ulcers (AU), a late complication of bowel resection in infancy, focusing on the treatment of iron-deficiency anaemia (IDA) with ferric carboxymaltose (FC). METHODS: Patients with a diagnosis of AU, treated at the Paediatric Department of the Institute for Maternal and Child Health IRCCS "Burlo Garofolo" from February 2012 to December 2020 were included. Haemoglobin (Hb) values, IDA related symptoms, the need for blood transfusions, for oral or intravenous (iv) iron supplementation and for surgical resections were compared before and after treatment with FC. Adverse effects of FC were recorded. RESULTS: Ten patients with an established diagnosis of AU were identified; eight (8 out of 10) received at least one administration of FC. Lower and higher Hb values increased significantly after treatment (4.9 g/dL vs. 8.2 g/dL, p = 0.0003; 9.9 g/dL vs. 13.5 g/dL, p = 0.0008 respectively), with a significant reduction of the need for blood transfusions (p = 0.0051) and for oral and iv iron supplementation. While receiving standard therapies, seven patients (7 out of 8) complained of asthenia; this symptom resolved in all cases after FC administration. Before FC treatment, two patients (2 out of 8) required surgical resection of AU, with a recurrence of anaemia after a few weeks; after at least one FC infusion, no children needed further bowel resection for IDA. FC caused mild asymptomatic hypophosphatemia in one case. CONCLUSION: FC appears to be effective and safe in the paediatric population for the treatment of IDA resulting from AU.

7.
Arch Dis Child Educ Pract Ed ; 107(3): 196-198, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-33122261

RESUMEN

Unarousable child with short bowelA 4-year-old boy was admitted with progressive lethargy of a few hours' duration and no other symptoms. His medical history was relevant for short bowel syndrome (SBS), following neonatal volvulus, with residual bowel length of 23 cm and intact ileocecal valve. He had similar self-limiting episodes in the past, after weaning parenteral nutrition, especially after eating large meals. The day before, he had consumed a large amount of apples.Arterial blood gas (ABG) analysis showed metabolic acidosis with normal lactacidaemia (pH 7.09, pCO2 19 mm Hg, pO2 101 mm Hg, HCO3 5.8 mmol/L, BE -24, anion gap 29.4, chloride 116 mmol/L, L-lactate level 4 mmol/L).On admission, the child could be awakened, but he was confused with slurred speech (Glasgow Coma Scale 14), with a body temperature of 37 C°, a heart rate of 125 beats/min and a respiratory rate of 38 breaths/min. The abdomen was distended, without guarding and with normal bowel sounds. Blood glucose levels were normal, as well as white blood cell count, liver and kidney function test and C reactive protein. An abdominal ultrasound ruled out an intussusception. An abdominal X-ray was performed too (see figure 1).


Asunto(s)
Acidosis , Ácido Láctico , Dolor en el Pecho , Niño , Preescolar , Familia , Humanos , Recién Nacido , Masculino
8.
Ital J Pediatr ; 47(1): 146, 2021 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-34210321

RESUMEN

BACKGROUND: Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of heterogenous, acquired, autoimmune disorders that affect the muscle. While the association between IIMs and malignancy has been widely reported in adults, cancer-associated myositis (CAM) is rare in children, so that routine malignancy screening is not generally performed. This report shows a case of severe CAM in a child. CASE PRESENTATION: An 11-years-old girl presented with worsening dyspnea after a 3-weeks history of progressive proximal weakness, myalgia, dysphagia, and weight loss. Her past history was remarkable for a type I Arnold-Chiari malformation associated with an anterior sacral meningocele. Physical examination showed severe hypotony and hypotrophy. Pulse oximetry and blood test showed a type II respiratory failure (SpO2 88%, pCO2 68 mmHg) and increased muscle enzyme levels (CPK 8479 U/L, AST 715 U/L, ALT 383 U/L, LDH 1795 U/L). The patient needed invasive mechanical ventilation. Inflammatory myositis was considered and treatment with intravenous methylprednisolone (30 mg/Kg/day for 3 days followed by 2 mg/Kg/day) and IVIG (1 g/kg/day for 2 days) was started. Muscle biopsy showed endomysial and perimysial necrosis and inflammation. The presence of serum anti-TIF1-γ antibody positivity led to a malignancy screening. Whole-body MRI showed a mature teratoma underneath sacral meningocele and both lesions were surgically removed. Given the histological and clinical severity of the myopathy, mycophenolate (500 mg twice a day) and rituximab (360 mg/m2, 4 weekly infusions) were added. Due to extreme muscular wasting, severe malnutrition and intolerance to enteral feeding the patient needed a transient tracheostomy and parenteral nutrition, followed by physiotherapy, speech therapy and nocturnal non-invasive ventilation. A complete remission was achieved 3 months after. CONCLUSIONS: Among cancer-associated autoantibodies (CAAs) in adult patients, anti-TIF1-γ carries the highest risk of CAM, which recognizes with a high likelihood a paraneoplastic pathogenesis. In children, anti-TIF1-γ antibody has been associated with severe cutaneous disease, lipodystrophy, and chronic disease course, but not with CAM, which is overall rare in younger patients. Severe onset of a JIIM, especially if anti-TIF1-γ antibody positive, should prompt suspect of a CAM and lead to a screening for malignancy.


Asunto(s)
Meningocele/diagnóstico por imagen , Meningocele/cirugía , Miositis/diagnóstico , Miositis/terapia , Teratoma/diagnóstico por imagen , Teratoma/cirugía , Biomarcadores de Tumor/sangre , Niño , Terapia Combinada , Diagnóstico Diferencial , Quimioterapia Combinada , Femenino , Humanos , Imagen por Resonancia Magnética , Ventilación no Invasiva , Nutrición Parenteral , Modalidades de Fisioterapia , Traqueostomía
9.
Front Pediatr ; 9: 679004, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34123974

RESUMEN

Background: Somatic symptom disorder is common in children and adolescents; usually, it is an expression of a mental health problem or other conditions that lead to psychosocial impairment and suffering. Among these, in pubertal age, gender dysphoria should be considered. Case Presentation: We present the case of a 15-year-old girl admitted to the hospital because of a 2-month history of scattered arthralgia and myalgia, headache, and fatigue, with repeated visits to the emergency room. The physical exam was unremarkable, except for step walking and pain. Repeated diagnostic tests were normal, and consecutive psychological interviews disclosed intense suffering due to a gender incongruence. Referral to the hospital gender service was offered and refused by the parents. Conclusions: In pubertal age, gender dysphoria may be expressed through somatoform symptoms. Diagnosis is challenging to accept for the parents even in the presence of adequate multi-disciplinary hospital services.

12.
Arch Dis Child Educ Pract Ed ; 106(5): 286-288, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-31744808

RESUMEN

A 6-year-old boy was evaluated for a 6-week history of low back pain. Initially, the pain was exacerbated by movements, eventually showing a milder and fluctuating trend. History was unremarkable for previous traumatic events, fever or nocturnal pain. Physical examination revealed localised pain at palpation of the spinous processes at the lumbosacral level. Blood tests showed a normal blood count, negative C reactive protein (CRP) and erythrocyte sedimentation rate, normal lactic acid dehydrogenase (LDH) and creatine phosphokinase. A posterior-anterior radiograph of the lumbar spine resulted normal. An MRI scan revealed a lumbosacral transitional vertebra with bone oedema of the posterior arch until the spinous process. For better bone definition, a CT scan was performed ( figure 1 ).


Asunto(s)
Dolor de la Región Lumbar , Niño , Humanos , Dolor de la Región Lumbar/diagnóstico por imagen , Dolor de la Región Lumbar/etiología , Vértebras Lumbares/diagnóstico por imagen , Región Lumbosacra , Imagen por Resonancia Magnética , Masculino , Radiografía
13.
Arch Dis Child Educ Pract Ed ; 106(6): 344-346, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-32122955

RESUMEN

A 14-year-old girl was admitted to our institute with a history of intermittent bilateral ankle swelling, and moderate but progressively worsening pain which has lasted for 2 years.The patient's history was unremarkable. She did not take medications and was not involved in any sports activity. She reported no fever, gastrointestinal symptoms, fatigue, weight loss, travels abroad or previous infections. She reported moderate pain at night, associated with a sense of heaviness, tightness and general discomfort, and with no response to ibuprofen.Physical examination was remarkable only for bilateral ankle non-pitting oedema, more evident on the left leg, with a thickened skinfold at the base of the second toe, and without redness, swelling or skin warming.The patient had been previously examined, and her foot and ankle X-rays, ultrasound (US) and MRI were all negative. Blood tests (white cell count, C reactive protein, erythrocyte sedimentation rate, albumin, antinuclear antibodies, creatinine, transaminase, creatine kinase, lactate dehydrogenase, thyroid function and glucose) and urinalysis were in the normal range. Her ocular assessment and echocardiogram were also normal.


Asunto(s)
Tobillo , Neoplasias , Adolescente , Tobillo/diagnóstico por imagen , Edema/diagnóstico , Edema/etiología , Femenino , Humanos , Imagen por Resonancia Magnética , Ultrasonografía
14.
Eur J Pediatr ; 179(6): 993-997, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31965299

RESUMEN

The objective of the study is to evaluate the efficacy of corticosteroids in Sydenham chorea. This is a retrospective observational study. Clinical information of children with Sydenham chorea were collected. Outcome of Sydenham chorea was evaluated in consideration of presence or absence of corticosteroid therapy. Thirty patients were enrolled. A total of 15 were treated with prednisone, 15 received symptomatic drugs or no treatment. Patients who were treated with prednisone showed faster improvement (4 vs 16 days; p = 0.002) and shorter median time of remission (30 vs 135 days; p < 0.001).Conclusion: Our study showed that corticosteroid therapy is an effective treatment of Sydenham chorea.What is Known:• Steroid treatment in Sydenham chorea is widely used but it is not standardized.• Few manuscript report a beneficial use of steroids in Sydenham chorea if compared with no treatment.What is New:• Steroid treatment seems to be effective in both clinical remission and clinical improvement of symptoms among patients with Sydenham chorea.• Steroid treatment seems to be superior to conventional treatment.


Asunto(s)
Antiinflamatorios/uso terapéutico , Corea/tratamiento farmacológico , Prednisona/uso terapéutico , Niño , Esquema de Medicación , Femenino , Humanos , Quimioterapia de Inducción , Masculino , Estudios Retrospectivos , Resultado del Tratamiento
17.
Pediatr Pulmonol ; 54(6): E13-E15, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30938918

RESUMEN

We report the first case of Hughes Stovin Syndrome successfully treated with long-lasting tumor necrosis factor α (TNF-α) blocker (infliximab) treatment. Because of the failure of the standard therapeutic regimen with steroids and cyclophosphamide, infliximab was started achieving a stable disease remission and a complete resolution of pulmonary aneurysms. Hughes Stovin Syndrome, although rare, is a life-threatening condition that needs to be timely identified and treated aggressively. Our report underlines the importance of TNF-α blocker treatment in Hughes Stovin Syndrome, suggesting its use as long-term safe and useful.


Asunto(s)
Aneurisma/tratamiento farmacológico , Infliximab/uso terapéutico , Factor de Necrosis Tumoral alfa/antagonistas & inhibidores , Adolescente , Aneurisma/diagnóstico , Síndrome de Behçet , Ciclofosfamida/uso terapéutico , Humanos , Pulmón/patología , Masculino , Prednisona/uso terapéutico , Síndrome
19.
BMC Pediatr ; 19(1): 82, 2019 03 20.
Artículo en Inglés | MEDLINE | ID: mdl-30894155

RESUMEN

BACKGROUND: Ogilvie's syndrome is described in the adult population, but rarely seen in children. CASE PRESENTATION: We present a case of a girl who suffered acute colonic pseudo-obstruction after laparoscopic appendectomy. CONCLUSIONS: Ogilvie's syndrome, although rare in the pediatric population, should be considered as possible diagnosis after a surgical procedure in presence of persisting subocclusive symptoms and radiological signs of massive colonic dilatation without mechanical obstruction.


Asunto(s)
Apendicectomía/efectos adversos , Seudoobstrucción Colónica/etiología , Complicaciones Cognitivas Postoperatorias , Apendicectomía/métodos , Niño , Colon/diagnóstico por imagen , Seudoobstrucción Colónica/diagnóstico por imagen , Femenino , Humanos , Laparoscopía , Complicaciones Cognitivas Postoperatorias/diagnóstico por imagen , Radiografía Abdominal , Tomografía Computarizada por Rayos X
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