Congenital syphilis in Argentina: experience in a pediatric hospital

AbstractAlthough congenital syphilis (CS) is preventable, it is still an important health problem worldwide. Recently, an increase in the number of primary and congenital syphilis cases has been observed. Fetal infection can be particularly aggressive, but newborns can be asymptomatic at birth and run the risk of developing systemic compromise with a poor prognosis.We conducted a study (1987-2019) analyzing the medical records of CS diagnosis cases assisted at the Buenos Aires Children’ Hospital. Sixty-one patients were included. Information about demographics, clinical and laboratory findings, T. pallidum serology and treatment was collected. Median age at diagnosis was 2 months (IQ 1-6 months). The distribution of cases showed a bimodal curve, with a peak in 1993 and in 2017. The main clinical findings were: bone alterations in 36/61 (59%); hepatosplenomegaly in 33/61 (54.1%); anemia in 32/51 (62.8%); skin lesions 26/61 (42.6%) and renal compromise in 15/45 (33.3%). Cerebrospinal fluid was studied in 50/61 (81.9%); 5 (10%) were abnormal (reactive VDRL and/or cell alteration count). Only 23 (60.5%) patients had nontreponemal titers fourfold higher than their mothers did. Intravenous penicillin G for an average of 10-14 days was prescribed in 60/61 subjects and one patient received ceftriaxone. Remarkably, only 28 (46%) mothers were tested for syphilis during pregnancy.During follow-up, a decrease in RPR titers was observed reaching seroconversion in 31/34 (91%) subjects at a median of 19.2 months after treatment. Treponemal titers (TPHA) remained reactive.Our results highlighted that an increase in the number of cases of CS is occurring in our population with high morbidity related to delayed diagnosis. A good therapeutic response was observed.CS requires a greater effort from obstetricians to adequately screen for the disease during pregnancy and pediatricians should be alert in order to detect cases earlier, to provide an adequate diagnosis and treatment of CS.Author SummaryCS is caused by mother-to child transmission. Although screening of pregnant women and treatments are available, new cases are increasing worldwide. We reviewed the medical records of CS-patients assisted in our hospital over the past 30 years. Our results showed that there was an increase in the number of CS cases. At birth, most children were asymptomatic and later developed CS clinical manifestations. Penicillin treatment, and in one case ceftriaxone, was prescribed with a good clinical response. Nevertheless, one infant died, four had persistent kidney disorders and one showed bone sequelae damage. Spinal lumbar puncture did not modify therapeutic decisions. In the follow-up, a decrease in nontreponemal antibodies was observed as a marker of treatment response. We concluded that the detection and treatment of CS remains a great challenge for clinical practice in our region.It is crucial that pediatricians and obstetricians give greater attention and make a greater effort to detect this neglected disease in an attempt to reverse its upwards trend.

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Congenital syphilis in Argentina: Experience in a pediatric hospital

PLoS Neglected Tropical Diseases ◽

10.1371/journal.pntd.0009010 ◽

2021 ◽

Vol 15 (1) ◽

pp. e0009010

Author(s):

Luciana Noemí Garcia ◽

Alejandra Destito Solján ◽

Samanta Moroni ◽

Nicolas Falk ◽

Nicolás Gonzalez ◽

...

Keyword(s):

Low Income ◽

Therapeutic Response ◽

Congenital Syphilis ◽

Delayed Diagnosis ◽

Skin Lesions ◽

Population Characteristics ◽

Penicillin G ◽

High Morbidity ◽

Therapeutic Decisions

In spite of being preventable, Congenital syphilis (CS) is still an important, and growing health problem worldwide. Fetal infection can be particularly aggressive, but newborns can be asymptomatic at birth and, if left untreated, develop systemic compromise afterwards with poor prognosis. We analyzed 61 CS diagnosis cases between 1987–2019 presenting at the Buenos Aires Children’ Hospital. The distribution of cases showed a bimodal curve, with a peak in 1992–1993 and in 2014–2017. Median age at diagnosis was 2 months (IQ 1–6 months). The main clinical findings were: bone alterations (59%); hepatosplenomegaly (54.1%); anemia (62.8%); skin lesions (42.6%) and renal compromise (33.3%). Cerebrospinal fluid (CSF) was abnormal in 5 patients, normal in 45 and was not available for 11 patients. Remarkably, spinal lumbar puncture did not modify therapeutic decisions in any case. Between mothers, only 46% have been tested for syphilis during pregnancy and 60.5% patients had non-treponemal titers equal to or less than fourfold the maternal titer. Intravenous penicillin G was prescribed for all except one patient, who received ceftriaxone with good therapeutic response. During follow-up, 1.6% infants died, 6.5% had persistent kidney disorders and 1.6% showed bone sequelae damage. RPR titers decreased after treatment, reaching negative seroconversion in 43% subjects at a median of 26.4 months. Low adherence to follow up was observed due to inherent vulnerable and low-income population characteristics in our cohort. Our results highlight a rising tendency in cases referred for CS in our population with high morbidity related to delayed diagnosis. A good therapeutic response was observed. CS requires a greater effort from the health system to adequately screen for this disease during pregnancy, and to detect cases earlier, to provide an adequate diagnosis and treatment.

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Clinical presentations and long term prognosis of childhood onset polyarteritis nodosa in single centre of Korea

Scientific Reports ◽

10.1038/s41598-021-87718-6 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Jeong-Seon Lee ◽

Joong-Gon Kim ◽

Soyoung Lee

Keyword(s):

Polyarteritis Nodosa ◽

Clinical Manifestations ◽

Long Term Outcomes ◽

Childhood Onset ◽

Laboratory Findings ◽

Clinical Presentations ◽

Long Term Prognosis ◽

Digital Amputation

AbstractChildhood-onset polyarteritis nodosa (PAN) is a rare and systemic necrotising vasculitis in children affecting small- to medium-sized arteries. To date, there have been only a few reports because of its rarity. Thus, we aimed to investigate the clinical manifestations, laboratory findings, treatment, and long-term outcomes in patients with childhood-onset PAN and to evaluate the usefulness of the paediatric vasculitis activity score (PVAS). We retrospectively analysed the data of nine patients with childhood-onset PAN from March 2003 to February 2020. The median ages at symptom onset, diagnosis, and follow-up duration were 7.6 (3–17.5), 7.7 (3.5–17.6), and 7.0 (1.6–16.3) years, respectively. All patients had constitutional symptoms and skin manifestations, while five exhibited Raynaud’s phenomenon. Organ involvement was observed in one patient. The median PVAS at diagnosis was 7 (range: 2–32). Prednisolone was initially used for induction in all patients, and other drugs were added in cases refractory to prednisolone. All patients survived, but three patients with high PVAS at diagnosis experienced irreversible sequelae, including intracranial haemorrhage and digital amputation. In conclusion, early diagnosis and treatment may minimise sequelae in patients with childhood-onset PAN. This study suggests that high PVAS score at diagnosis may be associated with poor prognosis.

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Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01848-8 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Xiaowen Hu ◽

Guofeng Zhang ◽

Xianmeng Chen ◽

Kai-Feng Xu

Keyword(s):

Spontaneous Pneumothorax ◽

Delayed Diagnosis ◽

Clinical Manifestations ◽

Lower Lobe ◽

Skin Lesions ◽

Jiangsu Province ◽

Chinese Patients ◽

Renal Tumors ◽

Pulmonary Cysts ◽

Exon 11

Abstract Objective To clarify the epidemiological and clinical features of Birt–Hogg–Dubé syndrome (BHDS) in Chinese patients. Methods We identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or English languages published from January 1, 2008 to December 31, 2020. Studies without sufficient clinical data were excluded and cases under 18 years old were excluded. Results Twenty papers were included and comprised 120 families with 221 cases. Most families with BHDS were reported from institutions in Beijing (66.7%) and Jiangsu Province (15.8%); 80.8% of cases were reported within the past five years. The average duration from clinical presentation to diagnosis was 9.6 years. The average age was 47.0 ± 13.9 years (range, 18–84 years) and the ratio of male to female was 1:1.6. The most common manifestations of BHDS were multiple pulmonary cysts (92.4%), spontaneous pneumothorax (71.0%), skin lesions (18.1%) and renal tumors (3.6%). Pulmonary cysts were predominantly distributed in the lower lobe on chest CT imaging. Family history of spontaneous pneumothorax was identified in 84.7% of the families and average number of pneumothoraxes was 1.8 (range, 1–6). The FLCN gene mutation c.1285dupC/delC in exon 11 was the most frequent mutation observed (17.4% of patients). The recurrence rate of pneumothorax after conservative treatment (including tube thoracostomy) was 29/41 (71%) while the pneumothorax recurred after surgical treatment (pulmonary bullectomy or pleurodesis) in only 4/37 (11%). Conclusions Although BHDS has been increasingly reported in the recent years, only minority of families were reported from institutions outside of Beijing and Jiangsu Province. The dominant clinical manifestations were pulmonary cysts associated with recurrent pneumothorax, while skin lesions and renal tumors were less commonly reported. Delayed diagnosis along with suboptimal management appear to represent critical challenges for Chinese patients with BHDS.

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Birt-Hogg-Dubé Syndrome in Chinese Patients: A Literature Review of 120 Families

10.21203/rs.3.rs-247951/v1 ◽

2021 ◽

Author(s):

Guofeng Zhang ◽

Xianmeng Chen ◽

Kaifeng Xu ◽

Xiaowen Hu

Keyword(s):

Spontaneous Pneumothorax ◽

Delayed Diagnosis ◽

Clinical Manifestations ◽

Lower Lobe ◽

Skin Lesions ◽

Jiangsu Province ◽

Chinese Patients ◽

Renal Tumors ◽

Pulmonary Cysts ◽

Exon 11

Abstract ObjectiveTo clarify the epidemiological and clinical features of Birt-Hogg-Dubé syndrome (BHDS) in Chinese patients. MethodsWe identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or English languages published from January 1, 2006 to December 31, 2020. Studies without sufficient clinical data were excluded and cases under 18 years old were excluded. ResultsTwenty papers were included and comprised 120 families with 221 cases. Most families with BHDS were reported from institutions in Beijing (66.7%) and Jiangsu Province (15.8%); 80.8% of cases were reported within the past five years. The average duration from clinical presentation to diagnosis was 9.6 years. The average age was 47.0±13.9 years (range, 18-84 years) and the ratio of male to female was 1:1.6. The most common manifestations of BHDS were multiple pulmonary cysts (92.4%), spontaneous pneumothorax (71.0%), skin lesions (18.1%) and renal tumors (3.6%). Pulmonary cysts were predominantly distributed in the lower lobe on chest CT imaging. Family history of spontaneous pneumothorax was identified in 84.7% of the families and average number of pneumothoraxes was 1.8 (range, 1-6). The FLCN gene mutation c.1285dupC/delC in exon 11 was the most frequent mutation observed (17.4% of patients). The recurrence rate of pneumothorax after conservative treatment (including tube thoracostomy) was 29/41 (71%) while the pneumothorax recurred after surgical treatment (pulmonary bullectomy or pleurodesis) in only 4/37 (11%).ConclusionsAlthough BHDS has been increasingly reported in the recent years, only minority of families were reported from institutions outside of Beijing and Jiangsu Province. The dominant clinical manifestations were pulmonary cysts associated with recurrent pneumothorax, while skin lesions and renal tumors were less commonly reported. Delayed diagnosis along with suboptimal management appear to represent critical challenges for Chinese patients with BHDS.

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Effect of Genetic and Laboratory Findings on Clinical Course of Antisynthetase Syndrome in a Hungarian Cohort

BioMed Research International ◽

10.1155/2018/6416378 ◽

2018 ◽

Vol 2018 ◽

pp. 1-9 ◽

Cited By ~ 2

Author(s):

Katalin Szabó ◽

Levente Bodoki ◽

Melinda Nagy-Vincze ◽

Anett Vincze ◽

Erika Zilahi ◽

...

Keyword(s):

Prognostic Markers ◽

Clinical Course ◽

Disease Onset ◽

Skin Lesions ◽

Clinical Database ◽

Laboratory Findings ◽

Disease Phenotypes ◽

Genetic Features ◽

Hla Dqa1

The aim of this study was to determine the clinical, serological, and genetic features of anti-Jo-1 positive antisynthetase patients followed by a Hungarian single centre to identify prognostic markers, which can predict disease phenotypes and disease progression. It was a retrospective study using clinical database of 49 anti-Jo-1 positive patients. 100% of patients exhibited myositis, 73% interstitial lung disease, 88% arthritis, 65% Raynaud’s phenomenon, 43% fever, 33% mechanic’s hand, and 12% dysphagia. We could detect significant correlation between anti-Jo-1 titer and the CK and CRP levels at disease onset and during disease course. HLA DRB1⁎03 positivity was present in 68.96% of patients, where the CK level at diagnosis was significantly lower compared to the HLA DRB1⁎03 negative patients. HLA DQA1⁎0501-DQB1⁎0201 haplotype was found in 58.62% of patients, but no significant correlation was found regarding any clinical or laboratory features. Higher CRP, ESR level, RF positivity, and the presence of fever or vasculitic skin lesions at the time of diagnosis indicated a higher steroid demand and the administration of higher number of immunosuppressants during the follow-up within anti-Jo-1 positive patients. The organ involvement of the disease was not different in HLA-DRB1⁎0301 positive or negative patients who were positive to the anti-Jo-1 antibody; however, initial CK level was lower in HLA-DRB1⁎0301 positive patients. Distinct laboratory and clinical parameters at diagnosis could be considered as prognostic markers.

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A Review of Multisystem Inflammatory Syndrome in Children (MIS-C) Associated with COVID-19

hormozgan medical journal ◽

10.5812/hmj.107048 ◽

2020 ◽

Vol 24 (4) ◽

Author(s):

Alireza Ghodsi ◽

Abdolreza Malek ◽

Sara Ghahremani

Keyword(s):

Clinical Presentation ◽

Age Groups ◽

Clinical Manifestations ◽

Organ Involvement ◽

High Morbidity ◽

Laboratory Findings ◽

Persistent Fever ◽

Number Of Children ◽

Relevant Evidence ◽

Inflammatory Syndrome

: The coronavirus disease 2019 (COVID-19) pandemic, with a high morbidity and mortality rate, has affected all age groups. COVID-19 infection in children usually has minimal symptoms, but the number of children with the inflammatory syndrome with clinical features similar to the Kawasaki disease has increased during the COVID-19 pandemic. Information about this emerging COVID-19 manifestation also called the multisystem inflammatory syndrome in children (MIS-C), is still incomplete. Patients typically present with persistent fever, followed by shock or multi-organ involvement. Laboratory findings and clinical presentation of this multi-organ involvement is part of the diagnostic criteria. Early treatment and multidisciplinary referral to pediatric specialists are essential. The prognosis of MIS-C is not yet fully understood. Although most children survive, several deaths have also been reported. Based on relevant evidence, this study aimed to review the pathophysiology, clinical manifestations, laboratory and imaging findings, diagnosis, treatment recommendations, and prognosis of MIS-C associated with COVID-19.

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Grover’s disease in a patient with atopic dermatitis - a case report

Medicinski pregled ◽

10.2298/mpns2102033j ◽

2021 ◽

Vol 74 (1-2) ◽

pp. 33-37

Author(s):

Sanja Jakovljevic ◽

Ljuba Vujanovic ◽

Dejan Ogorelica ◽

Aleksandra Fejsa-Levakov ◽

Jasmina Sekulic

Keyword(s):

Case Report ◽

Immunoglobulin E ◽

Histopathological Examination ◽

Correct Diagnosis ◽

Elevated Serum ◽

Clinical Manifestations ◽

Skin Lesions ◽

Complete Regression ◽

Laboratory Findings ◽

Topical Corticosteroids

Introduction. Grover?s disease is characterized by pruriginous polymorphic rash with a variable course and duration. Although the etiology is still unknown, the disease is often associated with other dermatoses, malignant diseases, use of certain medications, as well as immunosuppression. Case Report. We report a case of a 70-year-old male patient who was referred for examination to the Clinic of Dermatovenereology Diseases, Clinical Center of Vojvodina, due to a rash that lasted for nine months. The first lesions on the skin appeared around the nipples as exudative eczematous plaques. A few months later, identical lesions appeared on the lower legs. During treatment with systemic antihistamines and topical corticosteroids, there were episodes of transient improvements and re-exacerbations. In the meantime, erythematous brownish, round and oval papules appeared on the abdomen and the back, accompanied by intense itch. Laboratory findings revealed eosinophilia and elevated serum immunoglobulin E levels. A skin biopsy of the back lesion was performed and the histopathological examination confirmed the diagnosis of Grover?s disease. After the systemic treatment using corticosteroids and antihistamines, with gradual dose reduction and application of topical corticosteroids and emollients, complete regression of the skin lesions was achieved. Conclusion. Since the clinical manifestations of the disease may be nonspecific and discrete, dermatopathological analysis is of crucial importance in making the correct diagnosis. In patients with atopy, the treatment with systemic corticosteroids, antihistamines and topical agents may lead to regression of skin lesions with a significant improvement in the quality of life.

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Essential syphilitic alopecia: Non-scarring alopecia in 21-year-old man

Our Dermatology Online ◽

10.7241/ourd.2021e.2 ◽

2021 ◽

Vol 12 (e) ◽

pp. 1-3

Author(s):

Hafssa Chehab ◽

Bertrand Richert

Keyword(s):

Hair Loss ◽

Previous History ◽

Treponema Pallidum ◽

Clinical Manifestations ◽

Skin Lesions ◽

Secondary Syphilis ◽

Laboratory Evaluation ◽

History Of ◽

High Level

ABSTRACT Alopecia syphilitica is a less common clinical manifestations of secondary syphilis. It is uncommon for hair loss to be the sole or predominant manifestation, as hair loss is the chief clinical and histologic differential diagnosis of. The main difference between alopecia areata and Alopecia syphilitica is the detection of Treponema pallidum in syphilis. We present the case of a 21- year-old belgium man with different patches of non-cicatricial alopecia of his scalp. The patient denied previous history of genital or other skin lesions. Laboratory evaluation was positive for syphilis. The diagnosis of alopecia syphilitica was made and he was treated with single intramuscular injections of benzathine penicillin. The lesions improved with treatment in all the patients who attended follow-up. Dermatologists should maintain a high level of clinical suspicion for this uncommon manifestation of syphilis, particularly when it is the only symptom.

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Why Is Hyperparathyroidism Underdiagnosed and Undertreated in Older Adults?

Clinical Medicine Insights Endocrinology and Diabetes ◽

10.1177/1179551418815916 ◽

2018 ◽

Vol 11 ◽

pp. 117955141881591 ◽

Cited By ~ 6

Author(s):

Alex Dombrowsky ◽

Benjamin Borg ◽

Rongbing Xie ◽

James K Kirklin ◽

Herbert Chen ◽

...

Keyword(s):

Quality Of Life ◽

Medical Records ◽

Older Patients ◽

Elevated Serum ◽

Delayed Diagnosis ◽

Treatment Strategies ◽

Care Processes ◽

Surgical Evaluation

Introduction: Hyperparathyroidism significantly decreases quality of life, yet elderly patients are underdiagnosed and undertreated even though parathyroidectomy offers definitive cure with minimal morbidity. The purpose of this study is to determine why older patients with hyperparathyroidism are not appropriately diagnosed and referred for parathyroidectomy. Methods: We reviewed charts for a random sample of 25 patients aged 75 and older who had hyperparathyroidism and were referred for surgical evaluation, and 25 who were not referred. Two reviewers independently evaluated medical records to identify reasons for delayed diagnosis of hyperparathyroidism and reasons for nonreferral for parathyroidectomy. Results: The median age of our cohort was 84 (80-96) years, 90% were women, 60% were white, and median follow-up was 5.5 (1-17) years. In 58% of all patients, an elevated serum calcium was not acknowledged. Even when calcium and parathyroid hormone levels were both elevated, the diagnosis was missed in 28% of patients, and 16% with clear symptoms of hyperparathyroidism remained undiagnosed. For 42% of patients, a nonsurgeon informed them that surgery offered no benefit. Surgery was also rejected as a treatment for 36% of patients despite the development of new symptoms or rising calcium. Conclusions: Substantial gaps exist in processes for diagnosis and referral of patients with hyperparathyroidism that lead to underdiagnosis and undertreatment. To improve rates of diagnosis and treatment, strategies are needed to educate nonsurgeons and patients about the benefits of surgery and to modify care processes to more efficiently diagnose and refer patients.

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Utility of post-therapy surveillance scans in DLBCL.

Journal of Clinical Oncology ◽

10.1200/jco.2013.31.15_suppl.8504 ◽

2013 ◽

Vol 31 (15_suppl) ◽

pp. 8504-8504 ◽

Cited By ~ 7

Author(s):

Carrie A. Thompson ◽

Matthew J. Maurer ◽

Herve Ghesquieres ◽

William R Macon ◽

Thomas Matthew Habermann ◽

...

Keyword(s):

Medical Records ◽

Clinical Manifestations ◽

B Cell Lymphoma ◽

Post Treatment ◽

Physical Exam ◽

Aggressive Lymphoma ◽

Low Grade ◽

University Of Iowa ◽

Post Therapy

8504 Background: Diffuse large B-cell lymphoma (DLBCL) is an aggressive lymphoma. The optimal follow-up strategy for patients (pts) in remission is not clear. The goal of this study is to determine the utility of surveillance scans in a large, prospective, multi-institutional cohort of DLBCL pts. Methods: Patients were enrolled in the University of Iowa/Mayo Clinic SPORE Molecular Epidemiology Resource (MER), a prospective cohort of newly diagnosed lymphoma pts. All pts were followed for events including relapse, re-treatment, and death with events verified by medical records. Patients eligible for this study had biopsy proven DLBCL and were treated with anthracycline based immunochemotherapy (IC). Initial and post-treatment management was per treating physician. Medical records were re-reviewed in pts with events for clinical details at relapse and relationship to planned follow-up visits and surveillance scans. Results: 644 pts with DLBCL treated with IC were enrolled in MER from 2002-2009. Median age was 63 years (range 18-92), 54% were men, and median f/u was 59 months (range 8-116). 537 pts entered post-treatment observation; 109 (20%) of the 537 pts relapsed and 41 died from other causes. 42% of relapses were in the first 12 months following diagnosis, 27% between 12-24 months, and 31% >24 months. In the 109 who relapsed, 62% of pts (62/100, 9 unknown) presented to their physician earlier than a planned follow-up visit due to symptoms. At the time of relapse, 68% were symptomatic, 42% of pts had abnormal physical exam, and 55% had elevated LDH; 87% of pts had ≥1 of these features. Of the 38 pts with relapse detected at a planned visit, 26 had clinical features of relapse and 12 pts had relapse detected solely by planned surveillance scan; 4 pts had relapse of low-grade or other subtype and 8 had DLBCL relapse (4 of whom had equivocal/positive PET at the end of IC). Thus, surveillance scanning detected DLBCL relapse prior to clinical manifestations in only 8/537 pts (1.5%) observed post DLBCL therapy. Conclusions: The vast majority of DLBCL relapses occur outside of planned follow-up visits and are accompanied by symptoms, physical exam, or laboratory abnormalities. Routine surveillance scans post-therapy add little to detection of DLBCL relapse.

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