Morphologic-anatomical, radiological and clinical features of the type 6 of nasal septum deformities in man

Uvod: Svrha ovoga istraživanja je bila utvrditi postoje li podudarnosti između učestalosti, anatomsko-morfoloških, radioloških i kliničkih znakova karakterističnih za tip 6 deformacija nosnog septuma. ----- Metode i materijali: Makroskopski je pregledano je 114 nasumice odabranih maceriranih ljudskih lubanja (>18 godina; 75 muški, 28 žene). Potom su sve navedene lubanje pregledane i radiološki i to snimanjem kompjuterskom tomografijom. Sve su lubanje bile skenirane u fiksnoj poziciji koristeći „cone beam“ kompjuteriziranu tomografiju (CBCT) na aparatu SCANORA® 3D; SOREDEX (Finska); snimke su rađene u digitalnim slikama i pomoću obrazaca medicinskog formata. Klinička je incidencija ovoga tipa deformacija nosnog septuma promatrana i retrogradno, odnosno iz literaturnih podataka koji potječu iz studija rađenih u raznim dijelovima svijeta. ----- Rezultati: Učestalost tipa 6 je u bolesnika varirala između 9-11% dok je ona na CT snimkama lubanja bila 7.9%. Makroskopski je utvrđena učestalost koja je bila dva do tri puta veća od prethodnih dviju (21.1%). ----- Zaključci: Tip 6 deformacija nosnog septuma se može uspješno prepoznati bilo kliničkim pregledom (prednja rinoskopija), bilo na koronalnim snimkama kompjuteriztirane tomografije. Promatranje na maceriranim ljudskim lubanjama pruža znatno lakši pristup morfologiji ovoga područja te daje uvid u statistički značajnu, veću učestalost. Tip 6 zbog njegove genske pozadine i povezanosti s nasljednim bolestima i stanjima kao što su rascjep usne i/ili nepca i akutni koronarni sindrom treba posebno pratiti i registrirati.Introduction: The aim of this study was to examine the possible correspondence between the incidence of the anatomic-morphologic, radiologic and clinical signs characteristic for the type 6 of the nasal septal deformities. ----- Methods and materials: An amount of 114 randomly selected macerated human skulls (>18 years, 75 males, 28 females) have been examined by means of macroscopic inspection. All the skulls have been also examined by means of CT scanning in coronal projection in a fixed position using the " cone beam " computed tomography (CBCT) at SCANORA® 3D; SOREDEX. Clinical incidence of this type has been studied using the literature data from various studies. ----- Results: The incidence of the type 6 in patients ranged between 9-11% while the incidence found on CT scans of the macerated skulls was 7.9%. However, the incidence found by macroscopic observations of the macerated skulls was bigger (21.1%). ----- Conclusions: Type 6 nasal septal deformity can be successfully recognized both during the clinical examination (anterior rhinoscopy) and on the coronal CT-scans. The observations on the macerated human skulls offer much easier approach and shows a statistically significant higher incidence. Type 6 deserves particular attention because of its direct connection to the inherited diseases like cleft lip/palate and acute coronary syndrome

Anatomical and clinical features of Mladina type 6 nasal septum deformation and its impact on speech and hearing performances

Aim: The aim of this study was to detect the frequency of type 6 deformation overall compared to the results obtained by the conventional diagnostic method and to determine if there was a difference according to this deformation type in speech and hearing performances. Methods: The study was performed at the Institute of Anatomy, where a total of 114 randomly selected skulls were scanned by the cone-beam technique (CBCT). The other group of 100 patients, 50 with and 50 without type 6 deformation was examined by ORL and speech therapists at the ORL HNS Department to determine if there was a significant deterioration in speech and hearing performances between those groups. Results: There was a statistically significant difference (p<0.0001) in the frequency of type 6 deformation as diagnosed by visual inspection (22.8%) and computed tomography (7.9%). No statistically significant difference was found between the two groups of patients with or without type 6 deformation in speech and hearing performances according to the patient’s age and sex. Conclusions: The frequency of type 6 nasal septal deformation was higher by visual inspection of the skulls than by CT imaging. Septal deformation type 6, probably have one-fourth to one-fifth people in the population, so the number of clinically overlooked and/or unrecognized types 6 was much greater than we thought it to be. According to a high frequency of those deformations, we explored if there was a deterioration in speech and hearing performances in those patients but we did not find significant difference according to the patient’s age and sex

Anatomical and clinical features of Mladina type 6 nasal septum deformation and its impact on speech and hearing performances

Aim: The aim of this study was to detect the frequency of type 6 deformation overall compared to the results obtained by the conventional diagnostic method and to determine if there was a difference according to this deformation type in speech and hearing performances. Methods: The study was performed at the Institute of Anatomy, where a total of 114 randomly selected skulls were scanned by the cone-beam technique (CBCT). The other group of 100 patients, 50 with and 50 without type 6 deformation was examined by ORL and speech therapists at the ORL HNS Department to determine if there was a significant deterioration in speech and hearing performances between those groups. Results: There was a statistically significant difference (p<0.0001) in the frequency of type 6 deformation as diagnosed by visual inspection (22.8%) and computed tomography (7.9%). No statistically significant difference was found between the two groups of patients with or without type 6 deformation in speech and hearing performances according to the patient’s age and sex. Conclusions: The frequency of type 6 nasal septal deformation was higher by visual inspection of the skulls than by CT imaging. Septal deformation type 6, probably have one-fourth to one-fifth people in the population, so the number of clinically overlooked and/or unrecognized types 6 was much greater than we thought it to be. According to a high frequency of those deformations, we explored if there was a deterioration in speech and hearing performances in those patients but we did not find significant difference according to the patient’s age and sex

Dasatinib-induced nephrotic syndrome: a case of phenoconversion?

We present the case of a 33-year-old chronic myeloid leukemia (CML) female patient, in whom the occurrence of nephrotic syndrome, during the treatment with tyrosine kinase activity inhibitors (TKIs), was potentially influenced by transient phenoconversion. Seven years after the CML diagnosis in 2004 and complete response, the patient experienced pain in the mandible and extremities. After this, imatinib was replaced by nilotinib, but generalized maculopapular rash was presented and successfully treated with antihistamines. The therapy was then discontinued due to planned pregnancy, and the patient experienced a relapse of CML with BCR-ABL/ABL1 transcripts of 18.9%. Dasatinib was introduced, and CML was in remission. Two years later, urine protein levels (6.19 g/L) and erythrocyte sedimentation rate were elevated (ESR = 90 mm/3.6 ks). The patient was diagnosed with nephrotic syndrome. With dasatinib dose reduction, urine protein level returned to the reference range. In order to determine the best genotype-guided therapy, the patient underwent pharmacogenomic testing, showing a homozygous CYP3A4 genotype *1/*1, associated with extensive metabolizer (EM) enzyme phenotype, typical for normal rates of drug metabolism for TKIs. However, this was inconsistent with nephrotic syndrome occurrence. A possible explanation would be CYP3A4 EM genotype coding a poor metabolizer enzyme phenotype, leading to the drug accumulation in the patient’s blood. This transient phenoconversion can be explained by inflammation with elevated ESR during nephrotic syndrome. This case shows that a broader approach that recognizes genetic, clinical, and epigenomic factors is required for a quality decision on the personalized therapy regimen

Morphologic-anatomical, radiological and clinical features of the type 6 of nasal septum deformities in man

Uvod: Svrha ovoga istraživanja je bila utvrditi postoje li podudarnosti između učestalosti, anatomsko-morfoloških, radioloških i kliničkih znakova karakterističnih za tip 6 deformacija nosnog septuma. ----- Metode i materijali: Makroskopski je pregledano je 114 nasumice odabranih maceriranih ljudskih lubanja (>18 godina; 75 muški, 28 žene). Potom su sve navedene lubanje pregledane i radiološki i to snimanjem kompjuterskom tomografijom. Sve su lubanje bile skenirane u fiksnoj poziciji koristeći „cone beam“ kompjuteriziranu tomografiju (CBCT) na aparatu SCANORA® 3D; SOREDEX (Finska); snimke su rađene u digitalnim slikama i pomoću obrazaca medicinskog formata. Klinička je incidencija ovoga tipa deformacija nosnog septuma promatrana i retrogradno, odnosno iz literaturnih podataka koji potječu iz studija rađenih u raznim dijelovima svijeta. ----- Rezultati: Učestalost tipa 6 je u bolesnika varirala između 9-11% dok je ona na CT snimkama lubanja bila 7.9%. Makroskopski je utvrđena učestalost koja je bila dva do tri puta veća od prethodnih dviju (21.1%). ----- Zaključci: Tip 6 deformacija nosnog septuma se može uspješno prepoznati bilo kliničkim pregledom (prednja rinoskopija), bilo na koronalnim snimkama kompjuteriztirane tomografije. Promatranje na maceriranim ljudskim lubanjama pruža znatno lakši pristup morfologiji ovoga područja te daje uvid u statistički značajnu, veću učestalost. Tip 6 zbog njegove genske pozadine i povezanosti s nasljednim bolestima i stanjima kao što su rascjep usne i/ili nepca i akutni koronarni sindrom treba posebno pratiti i registrirati.Introduction: The aim of this study was to examine the possible correspondence between the incidence of the anatomic-morphologic, radiologic and clinical signs characteristic for the type 6 of the nasal septal deformities. ----- Methods and materials: An amount of 114 randomly selected macerated human skulls (>18 years, 75 males, 28 females) have been examined by means of macroscopic inspection. All the skulls have been also examined by means of CT scanning in coronal projection in a fixed position using the " cone beam " computed tomography (CBCT) at SCANORA® 3D; SOREDEX. Clinical incidence of this type has been studied using the literature data from various studies. ----- Results: The incidence of the type 6 in patients ranged between 9-11% while the incidence found on CT scans of the macerated skulls was 7.9%. However, the incidence found by macroscopic observations of the macerated skulls was bigger (21.1%). ----- Conclusions: Type 6 nasal septal deformity can be successfully recognized both during the clinical examination (anterior rhinoscopy) and on the coronal CT-scans. The observations on the macerated human skulls offer much easier approach and shows a statistically significant higher incidence. Type 6 deserves particular attention because of its direct connection to the inherited diseases like cleft lip/palate and acute coronary syndrome

Morphologic-anatomical, radiological and clinical features of the type 6 of nasal septum deformities in man

Uvod: Svrha ovoga istraživanja je bila utvrditi postoje li podudarnosti između učestalosti, anatomsko-morfoloških, radioloških i kliničkih znakova karakterističnih za tip 6 deformacija nosnog septuma. ----- Metode i materijali: Makroskopski je pregledano je 114 nasumice odabranih maceriranih ljudskih lubanja (>18 godina; 75 muški, 28 žene). Potom su sve navedene lubanje pregledane i radiološki i to snimanjem kompjuterskom tomografijom. Sve su lubanje bile skenirane u fiksnoj poziciji koristeći „cone beam“ kompjuteriziranu tomografiju (CBCT) na aparatu SCANORA® 3D; SOREDEX (Finska); snimke su rađene u digitalnim slikama i pomoću obrazaca medicinskog formata. Klinička je incidencija ovoga tipa deformacija nosnog septuma promatrana i retrogradno, odnosno iz literaturnih podataka koji potječu iz studija rađenih u raznim dijelovima svijeta. ----- Rezultati: Učestalost tipa 6 je u bolesnika varirala između 9-11% dok je ona na CT snimkama lubanja bila 7.9%. Makroskopski je utvrđena učestalost koja je bila dva do tri puta veća od prethodnih dviju (21.1%). ----- Zaključci: Tip 6 deformacija nosnog septuma se može uspješno prepoznati bilo kliničkim pregledom (prednja rinoskopija), bilo na koronalnim snimkama kompjuteriztirane tomografije. Promatranje na maceriranim ljudskim lubanjama pruža znatno lakši pristup morfologiji ovoga područja te daje uvid u statistički značajnu, veću učestalost. Tip 6 zbog njegove genske pozadine i povezanosti s nasljednim bolestima i stanjima kao što su rascjep usne i/ili nepca i akutni koronarni sindrom treba posebno pratiti i registrirati.Introduction: The aim of this study was to examine the possible correspondence between the incidence of the anatomic-morphologic, radiologic and clinical signs characteristic for the type 6 of the nasal septal deformities. ----- Methods and materials: An amount of 114 randomly selected macerated human skulls (>18 years, 75 males, 28 females) have been examined by means of macroscopic inspection. All the skulls have been also examined by means of CT scanning in coronal projection in a fixed position using the " cone beam " computed tomography (CBCT) at SCANORA® 3D; SOREDEX. Clinical incidence of this type has been studied using the literature data from various studies. ----- Results: The incidence of the type 6 in patients ranged between 9-11% while the incidence found on CT scans of the macerated skulls was 7.9%. However, the incidence found by macroscopic observations of the macerated skulls was bigger (21.1%). ----- Conclusions: Type 6 nasal septal deformity can be successfully recognized both during the clinical examination (anterior rhinoscopy) and on the coronal CT-scans. The observations on the macerated human skulls offer much easier approach and shows a statistically significant higher incidence. Type 6 deserves particular attention because of its direct connection to the inherited diseases like cleft lip/palate and acute coronary syndrome

Pharmacogenomics at the center of precision medicine: challenges and perspective in an era of Big Data

Pharmacogenomics (PGx) is one of the core elements of personalized medicine. PGx information reduces the likelihood of adverse drug reactions and optimizes therapeutic efficacy. St Catherine Specialty Hospital in Zagreb/Zabok, Croatia has implemented a personalized patient approach using the RightMed Comprehensive PGx panel of 25 pharmacogenes plus Facor V Leiden, Factor II and MTHFR genes, which is interpreted by a special counseling team to offer the best quality of care. With the advent of significant technological advances comes another challenge: how can we harness the data to inform clinically actionable measures and how can we use it to develop better predictive risk models? We propose to apply the principles artificial intelligence to develop a medication optimization platform to prevent, manage and treat different diseases